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At age 30 I was diagnosed with a central retinal vein occlussion which caused the loss of sight in my left eye. My doctor revealed that I had hyperlipidemia and hypertension. My homocysteine level was at 11.5; 12.0 being considered high. Further testing by conducted by my Hematologist to determine why I clotted revealed the heterozygous presence of Factor V Leiden as well as MTHFR Gene Mutation. Is there any specific diet or lifestyle change that will decrease the risk factors associated with these genetic mutations?
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My wife and I are both carriers of beta thalassemia. I am heterozygous for the IVS I-6(T-C) mutation. My wife is heterozygous for the cd 41/42 (-CTTT) mutation. We have two healthy children, they each inherited only one of our traits. My wife is now about 14 weeks pregnant with our third baby. We just received results from the CVS test my wife had. The results were disappointing news for us, the fetus has inherited both of our Betathalassemia mutations. We want to know what the severity of the Betathalassemia disease would be for the child. We have been told (and from our own reading) that the child will require monthly blood transfusions and continuous therapy to remove the buildup of iron in the blood. We would like to know specifically the severity of the disease our child will have based on the combination of our particular traits. Please help. View Answer |
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can you get sickle-cell disease by donating blood? View Answer |
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Hi, I am a 29 man suffering from protein S deficiency. I had one DVT episode in 2002. Because of some positive family history (my father at the age of 40 had DVT but did not check protein S level, and after me my brother at 20 yr/old who was also protein S def) I was considered to keep on using Warfarin and keep my INR between 2 and 2.5. So far I do not have any problem and my INR is stable.
I am wondering if I marry somebody who is not my relative, how much is the possibility of having a child suffering protein S deficiency? And in case, how much is the possibility of dangerous thrombotic event?
And generally is it very bad to get married and have children while suffering from this trait?
Thanks, View Answer |
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2009-11-08 |
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How is a baby affected if only one parent has the Alpha-thalassemia gene? What are the bone deformities that can the baby can inherit? View Answer |
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2009-11-04 |
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I just found out that several family members on my father's side have Prothrombin Thrombophille. Four of the family members have died from stroke at an early age. Do I need to get checked for this? What should I do? View Answer |
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2009-11-04 |
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I am researching porphyria and I have come across a lot of information dealing with 'vampires'. Is there a type of porphyria that is nick-named something along the lines of "vampirism" or is this just a misconception? And if so, how is this diagnosed and what causes it?
Thank you very much for your time
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2009-10-14 |
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I view the many sites that refer to sickle cell. When these sites state that those that have the trait do not experience any of the pain or go into crises, they are wrong. I have the trait and I go into crises often. View Answer |
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2009-09-22 |
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My brother has been diagnosed with Factor V Leiden Mutation on one allele (heterozygous carrier). He has 2 daughters and I have 2 daughters. Should all these girls be tested due to the risk of possible complicated pregnancies, miscarriages etc. They are all of child bearing age. View Answer |
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2009-09-10 |
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I have been diagnosed with genetic haemochromatosis, with my ferritin levels at 383.Do my parents have to have disease as well for me to have it. View Answer |
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2009-09-08 |
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My husbands brother has thalassemia and his sister is a carrier. Our daughter has been diagnosed with anemia and is taking iron tablets. Is it likely that she has it. My husband was checked and told he did'nt have it. View Answer |
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2009-09-04 |
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Can Beta Thalassemia Minor turn into Myelodyplastic Syndrome? View Answer |
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2009-09-03 |
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SO i have beta heterozygous thalassemia minor.Could this have delayed my bone growth because i am one of the shortest guys in my class 5'7.And my body looks like 15 years old(except chest,pubic,armpit hair etc.).
I am 17.6 years old.
Is it possible to have massive growth spurt at late age because i have never experienced growth like 5 cm a year or more.
Thanks in advance? ;) View Answer |
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2009-09-02 |
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My husband is hemophilia type A moderate, I am not. How will this affect our children. View Answer |
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2009-08-27 |
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Can you get Hemochromatos from a blood transfusion? View Answer |
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2009-08-17 |
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I have a genetic condition called beta thalassaemia. I was diagnosed in 2001. Can this condition get any worse or better?We are planning to have our family soon but should we check whether my partner has this condition as well? how will this affect our baby? I have heard that if both parent have this condition then baby could be born with disability? how true is this and what can we do to rectify this?
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2009-08-14 |
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I am a foster care agency administrator. One of our foster children recently fathered a baby. The baby was diagnosed with Sickle Cell Anemia.
The baby's mother as well as the baby's father tested negative for the disease. Does this means that our foster child is not the father? Or can the disease skip generations genetically speaking? View Answer |
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2009-08-10 |
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I have Beta Thalassemia. I just tried to donate blood and was rejected for a low blood count. Could it be because of the Thalassemia? Would taking iron supplements help, prior to donating? Thank you. View Answer |
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2009-08-03 |
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My maternal grandfather had von Willibrand disorder, type 3. His parents were asymptomatic first cousins. I have two cousins who went through early menopause (one in her late teens and one in her twenties). I am 32 and suspect I may also be going through early menopause. Can early menopause be caused by having von Willibrant disorder. View Answer |
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2009-08-03 |
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My question is: My husband is a carrier of this condition (beta minor) he was not aware of this until after his children were born and they were diagnosed. Would all of his children have this condition? He has 2 daughters from a previous marriage (19/21 years old). One of his daughters has beta minor, the other one does not. We have a child together and she also has the beta minor. The question has come up for other reasons that one of his daughters (that does not carry it) might not be his child. My question is what is the possibility that not all of his children would inherit the disorder? View Answer |
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2009-07-23 |
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My husband at the age of 56 has just been diagnosed with protein c deficiency. He got tested after 3 of our 5 children tested positive for it. 2 of them have had episodes of blood clots in their legs with one having them in his lungs. My husband's mother was tested & she has it. Her father was a hemphiliac & all of my huband's male cousins had it. He was the only one who didn't. We find it very odd to have both hemophilia & protein c defieciency in one family. He wonders if he could possibly have hemophilia but the protein c offsets it. Our oldest son who has protein c deficiency has 2 children with neurofibromatosis. His wife has it also. Should they be tested for protein c deficiency at this time? They are 7 & 3. We would appreciate any information you might have. View Answer |
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2009-07-22 |
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This is a question concerning the Protein S Diffiency, my 14 year old son was hospitalized for a clot in his left leg and also his left arm. This is due to the fact that Protein S def. runs in his fathers side of the family. So far my son is the youngest to have the blood clots. The strang this is that out of 5 siblings that my husband has, it skipped every other child. (his father is the carrier of the disorder) The oldest has it, so does his child, the second child did not, the third child got it, her children (3) all have it, the fourth child does not have it, neither does his children, and of course, my husband being the fifth child has it and so does our son. Why did this disorder skip every other child, and seems to get stronger in each generation? What causes it? Can the mutation be stopped for future children in the family? View Answer |
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2009-07-22 |
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Hello,
I am a carrier of Thalassemia, and my husband is a carrier as well. I carry type b and he carries type a. I was wondering if you could tell me if our different types play a role in the 1/4 chance of having a child with the disease? Can you please give me some information about having children in our case? Thank you so much I greatly appreciate it.
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2009-07-21 |
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My daughter has been diagnosed with Hb durham or Hb brescia. We thought she only had a thalassemia trait, but genetic testing has said she has this Hb durham. I can find info on thalassemia but can't find anything on the other. Can you send me some info about this disorder? View Answer |
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2009-07-12 |
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I have recently had a blood test to test for Factor V Lieden due to a few family members who have this. My test came back "slightly" mutated. Is it possible to be "slighlty" mutated and is this of major concern. I was told to take a baby aspirin daily. View Answer |
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2009-07-09 |
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I have Hetero Factor V Leiden with one occurence of DVT and PE's. In one of the questions posted on your site the answer was that taking Fish Oil pills was not a good idea. Why? And does this include all Omega sources such as Flax seed? If so, what would be a sutiable way to get Omega 3's?
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2009-07-08 |
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I have Beta thal minor and my wife has alpha thal (silent)..we are expecting a baby...is their any danger of our child inheriting the disease and what is the probable level of severities... View Answer |
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2009-07-07 |
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I have been tested for the MTHFR and it came back with two mutations of the c677t gene. My doctor told me that i dont need to take any additional folic acid or the b6 and b12 vitamins. Is this correct? I have 3 sisters and all three of them have the same 2 gene mutations of the c677t gene and there doctors have them on extra folic acid and the b vitamines.My homocystine levels are within normal range so my doctor told me I dont need the additional folic acid and b vitamins. Should i be taking additonal folic acid and b vitamins? View Answer |
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2009-07-06 |
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Dear Geneticist,
My child was diagnose to have the HbH Disease at 18 months of age. This is due to his palor and underweight.
After the RBC test the Hb level was at 5.4ml/g.
We did a 2nd test when he turns 30 months old and no H inclusion detected. So we went again for beta thallesemia and still show negative. The test was done to all of our immediate family and none of us showing a carrier thallasemia. What do you think it can be and is there any type of rare thallesemia which may not conducted in Malaysia or Asia particularly.
My child Hb keep on decrease and it drops like from 12 to 6 in 2 months time. What should we do? Should we go for Bone Marrow Test or swith to other center that may have complete test on all type of thallesemia.
Thank you in advance on your concern and answer.
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2009-06-24 |
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My daughter and I are beta-thalassemia carriers, and we both have mild anemia. Are there any ways to alleviate the mild anemia since iron supplementation will have no affect? View Answer |
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2009-06-24 |
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Hi,
I was recently diagnosed as being MTHFR positive, two C mutation, and I am not exactly sure what this is. My Dr. hasn't given me much information about it and I am having a hard time finding any about the two C Mutation on the internet. I saw that there is hetero and homo and I am not sure which one I am. Please help as I am trying to have a baby and want to make sure I get the get treatment to carry my baby full term.
Thank you! View Answer |
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2009-06-23 |
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Hi
I am a carrier of the beta globin methemoglobinemia and I have 2 other children in the family who are also carriers of this condition. I was wondering if there is any known or experimental cure for this condition.
Thank you
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2009-06-20 |
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I am a hemochromatosis carrier. My gene test for HH mutations showed that I have a single copy of H63D. My ferritin levels have been abnormally high in the past, and they have been monitored for the past 3 years. I have also experienced abnormally high ALT enzymes at last twice in the past 3 years. My current doctor diagnosed me with NASH in April 2009. The diagnosis was based on lab work alone and may or may not stick, but I do believe I have some liver damage. Are there other genetic problems that might be causing my liver problems? Are there some rare types of anemia that someone with my gene profile might have that would elevate ALT, and what are their names? Thanks for your help. View Answer |
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2009-06-09 |
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I am due in 10 days with a baby boy. the father of the baby has factor 5 blood disorder and factor 2 both involve blood clotting correct? My question is 1) when should my son be tested for these disorders? and 2) should he recieve the vitamin K shot they give newborns in the hospital after they are born? View Answer |
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2009-06-09 |
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I was diagnosed with MTHFR polymorphism and began taking Deplin 9 months ago. Amoung the changes I have experienced is a big improvement in seasonal allergies this spring. Is there a between methylfolate and allergies? View Answer |
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2009-06-07 |
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i am a somatologist, my client has phorphyria and would like to have dermalogica facial treatments to even out her skin tone as it is quite yellow in colour. would it be ok if she goes onto the Chromo-white range? and would it be of any help to her. View Answer |
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2009-06-01 |
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A friend of mine told me he suffers from a blood disorder where the only treatment is cortisone. i want to know what is that disorder, what happens to a person that suffers from it and whether or not it's a critical or fatal condition ... if you could provide me with information about that disorder, that would be great...
thank you... View Answer |
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2009-05-30 |
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III BEEG FOR AN ANSWEER PLEEAASEEE, before getting married me and my boyfriend went for blood test. he has sickle cell disease and is suffering from it, and it turns out i have beta thalasemia.... is there any chance we could marry each other with out that 50% chance of our kids having the disease???? any chance at all, should i have mooore detaailed blood tests or something, PLEEEASEEE I BEEEG YOU TOOO ANSWEEER MEE PLEEEEASEEEEEE View Answer |
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2009-05-29 |
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I understood that traveling put me at a higher risk of clots and was told to walk around in the plane or to stop every 2 hrs and walk around in a car. I'm now going to do mission work in Peru and we will be arriving in Cusco which approximately 11,000ft and then we will work around 8000 ft. Will altitude have any effect on this condition? View Answer |
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2009-05-27 |
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My sister has beed diagnosed with MTHFR and found out that it will not effect her pregnency. My question though, is not concerning my sister, it is my mother, she has been very sick recently, and the doctors cannot figure out what is wrong. She brought up the fact that my sister has MTHFR and the doctors said that she may have that. What I want to know is would MTHFR cause gallbladder problems and gall stones to appear and then vanish with no warning. And even after the gall stones were gone she felt just likee she had when they were there. View Answer |
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2009-05-23 |
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I am a 51 y.o. infertile, osteopenic female w/a thyroidectomy. My blood tests results indicated: Positive for one copy of the C677T mutation (heterozygous) and I do NOT have a A1298C mutation. The methylmalonic acid and Homocysteine (nutritional and congenital) methylmalonic acid is 180. The homocysteine (nutritional and congenital) is 7.2. My doctor prescribed Deplin 7.5 mg. Does this make me a carrier and/or can this cause invitation to diseases as my life progresses? View Answer |
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2009-05-22 |
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Is it possible for a father & mother to test negative for a factor V gene and have children that do carry it? View Answer |
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2009-05-22 |
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My wife has acute porphyria and develops symtoms from time to time.
In order to avoid attacks as much as posible we want to know which drugs can trigger an attack.
Which drugs to treat p a i n are safe and which not ?
I.e. is Voltaren ( Novartis ) safe, what about Paracetamol and Aspirin ?
Is there a web site with a list of save and dangerous drugs in this condition ?
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2009-05-15 |
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Age 52, began to bleed internally due to Brachial DVT in upper arm 1 week after a manipulation surgery Nov 08. Hospitalized 7 days w/ initial INR of 1.3. After 4 days of Lovanox & Coumadin only came up to 1.5. They doubled & then doubled again; released with INR of 1.7. In 4 months was only therapeutic once (2.1) so Cardiologist switched to Lovanox the last 2 1/2 mos. Was told the DVT is exactly the same & came off Lovanox. Within 7 days felt exactly as I did at 1st hemorrhage. ER showed w/ no thinners had dropped to an INR of .94 & they expressed concern for hyperclotting They gave Lovanox in ER & a 2 week supply while I arranged more. My father had several strokes and died of congestive heart failure. My mother is 83, has pacemaker for carotid blood flow issues & valve replacemt. IF there were specific genetic anomalies,I am unaware of them. I have never been tested for a clotting disorder. Would a test for a clotting disorder be reasonable? What type?Also, Hematologist? View Answer |
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2009-05-11 |
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I am a soldier in the infantry i have been diagnosed with Porphryia now they are not letting me deploy because it may effect the way my blood clots and the effects it might have on my skin ie: getting mursa quickly but my question is does porphryia effect the way my blood clots? View Answer |
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2009-05-03 |
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My brother is mild haemophiliac A. Now me and my husband are planning for the baby. I havent done the test for carrier yet. I am worried about my baby if I am carrier. is there any cure for the baby before birth. i dont want to go for abortion.
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2009-04-30 |
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I have the MTHFR gene, and a protien C deficency. My Brother has a rare case of Deep Vein Thrombosis where his Vena Cava is completely blocked and shut from his lung all the way to to his right knee cap. His body has developed smaller veins to carry the blood flow to his organs. He also has the MTHFR gene. I am a smoker trying to quit. My hemotologist says I need to just be monitored semi annually. Do I need to be on blood thinners? Should I be looking for a second opinion. View Answer |
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2009-04-23 |
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Hello. I recently found out that my husband has beta thalassemia when he went for his annual check up and blood work. I then went to my doctor's and got tested myself. I also found out that I have this same trait. We are thinking about having children. What are the risks? What are the chances that our children will have this condition? Will it be full blown now that my husband and I both have this trait? Any advise and suggestions would be greatly appreciated. View Answer |
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2009-04-21 |
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I am a 41 year old black female, and I just recently found out that I have sickle cell anemia. I was shocked when my physician informed me, and even more worried because it was not diagnosed in me as a child. I was only told that I had the sicke cell trait. How could doctors have missed? I have two children, and I was never told that I had sickle cell anemia. Should I have my children tested? View Answer |
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2009-04-21 |
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I have 2 related questons?
1. Could prednisone alter the flow cytometry test for PNH causing a false negative result?
2. If so, is there a genetic test available for PNH? View Answer |
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2009-04-18 |
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I am a thalassemia B carrier (as are my mother and sister) Do I have to make sure that my partner is not a carrier to have a baby? If we are both carriers will that give our child the full disease? View Answer |
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2009-04-15 |
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I have one copy of the Factor II prothrombin 20210 mutation. My Dad who is still alive at 91 also tested positive for one copy of the mutated gene. He has had a stroke and several TIAs and members of his family have died of strokes. My Mom who has passed has had DVT, her Mom (my Grandmother) also had leg clots. My question-could my Mom have also had one copy of the F2 mutation? I understand that we get one copy of the F2 gene from each parent and my thoughts are that I received the mutated gene from my Dad and the normal one from my Mom. I understand that if she also had the abnormal gene that I could have ended up with two copies of the gene (homozygous). My conclusion-the fact that I only inherited one copy of the F2 mutation (from my Dad) DOES NOT rule out the possibility that my Mom could also have had one copy of the F2 mutation. Correct? View Answer |
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2009-04-15 |
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Our two adult daughters and one adult son have tested positive for Factor V Leiden. My husband and I have been tested for it and both tested negative. Should we have our tests redone? How is that possible that 3 or our 4 children have it and we do not. We have not had our 4th child tested yet, so we don't know what his outcome is, we presume he will probably have it. Those that were tested have just the one gene (?) or part. Each is taking a low dose asprin daily. Can you explain this to us? Thanks!
Thanks View Answer |
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2009-04-15 |
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My mother had at least 2 miscarriages one at nearly 51/2 months. My father died of complications after gallbladder surgery, pulmanary embali. They say he had polycythemia vera. He was 42. My brother just died at age 42 of blood cots in brain, stroke. He had had surgery on his foot a year before and gotten at least 20 or more clots in his lungs he had survived this. My sister had ITP when she was 23. She lived. My 6 year old had Kawasaki syndrome last year. He is good now and was caught between day 7-10 and treated. I am concerned with all these blood issues. What should I do now? Do you feel genetic testing should be done if so who do I see and what do I ask to test for? View Answer |
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2009-04-11 |
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Hello!
I have factor V and I understand the risks of taking any type of medication with estrogen. However, I also have PMSD and all of the doctors I have seen have told me that taking the PILL is the only medication to truly help this disorder. I have PSMD so bad that I am almost willing to take the pill. Can I do this safely? The PMSD is ruining my life. It effects me 2 weeks out of the month! Please help.
Thank you View Answer |
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2009-04-06 |
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My daughter has been going through several problems such as blisters on her skin, weakness in her limbs as well as loss of feeling in themand stomach problems. One of her doctors has questioned whether she has Porphyria. Because her husband is in the military the medical hoops they have to jump through are enormous. She was just referred to a hematologist. What are the best tests that need to be done to determine if this is in fact what the problem is? SHe has been sent back and forth between doctors and put on a large variety of pain meds to deal with the pain all of which may be contraindicated for this disease.
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2009-04-06 |
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Several of my relatives on my mother's side where recently diagnosed with factor 5 leiden. My mother tested negative but I do have blood clots. Since she does not have the mutuation should I get tested for this mutation? View Answer |
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2009-03-26 |
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I have many porphyria symptoms; sun-sensitivity and skin damage, intermittent gut problems which are becoming more frequent, auto-immune symptoms (titer of ANA antibodies in a diffuse pattern) parotitis, sicca, arthralgia, sacroilitis, redness on my neck and upper chest, peripheral neuropathy, "flares" after infection such as a cold, tea-colored urine. One aunt who has giant cell arteritis, polyarthralgia, and ascending aortic aneurysm. Three siblings in Dad's family had aortic aneurysms. Another aunt had "epilepsy" with behavioral issues and had to be institutionalized at 14. Please identify San Diego or Orange county doctors for me. View Answer |
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2009-03-22 |
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I was Dx with factor V liden last August. The only time prior that I clotted was after extensive surgery to my left knee three years prior. In september of last year I was told I have pneumonia in both lungs but later results determined that was a misdiagnosis. I had a PE. I was then put on lovinox until my INR was theraputic. In the end of november I suffered another clot in my right leg (no trauma) and that too caused more pulminary embolisms. At that time I was placed on coumadin and told i would be on it indefinately. My levels have been good since. On february the 20th I was admitted to the hospital to find my right lung was full of pe's. even though ive been religous about taking my coumadin and getting my INR tested why would I once again get clots and my INR dropped to fatal levels? (.7) I've since been discharged and my INR is constantly falling and impossible to maintain a theraputic balance. I'm only 31 and scared of the future! View Answer |
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2009-03-10 |
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Hi!
After having two miscarriages, my cousin was diagnosed with Factor 5 Leiden. She took/is taking blood thinners in order to conceive. She has been able to carry this baby without problems and is having a c-section at the end of April. No one else in our family has been tested for this. My husband and I are planning to start our family soon. Should I be tested before I try to get pregnant if a first cousin has Factor V? I have already had an anembryonic pregnancy and would like to do what I can to prevent another miscarriage. Also, can FV cause anembryonic pregnancies? And my last question - my family does have a history of placenta previa? Are Factor V Leiden and placenta previa related?
Thank you for your help!
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2009-03-04 |
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I wrote earlier and miss spoke I asked about genetics c which it should of been protein c. I would like to know if protein c has anthing to do with alpha1 antitrypsin deficiency.
Two of us have alpha1 antitrypsin Def and one so far have protein c deficiency do they have anything to do with each other.
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2009-03-04 |
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Hi, My son is going to be 24 yr's of age. When he was born they had to thin his blood. When reached school age he was getting colds alot and passing out. Finally they did blood work and said he was serverly animic. Then when he was in 4th to 6th grade they did more blood work and said he was born with a built in immune system to malaria. The Dr. then said has he got older he would have problems either with galbladder diease or large spleen. He still catches cold easily and bone and joint pain. His father my ex husband is from Vietname and i'm for the usa. I also have o rh neg. Blood type. So with all that said could there be a chance that he has sickle cell animea. Thank you for your time View Answer |
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2009-03-03 |
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I was diagnosed with homo Factor V Leiden a few years ago after both grandmothers had strokes, my aunt had DVT and PE, and both uncles were diagnosed with large and long blood clots in their arms and legs. My father is a carrier and my mother is homozygous. I have a few questions. After recent bilateral tarsal tunnel surgery, I had a very large hematoma develop. Are their any dangers associated with this and does it have anything to do with FVL? Should I be on any medications for this condition? I have had one miscarriage a few years back. Could this have been from FVL? Also, I have very irregular periods, now they are starting a few days after ending. Does this have anything to do with FVL? My PCP doesn't seem to care much, but the hematoma worries me because of the family hx. (The foot surgeon is a little concerned but he thinks the problem will dissolve over a few months.) Do any medications affect mental health? I have Bipolar I. View Answer |
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2009-03-01 |
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The Factor V (5) runs in my family. I was just diagnosed with the Factor V (Leiden) with the 141 bp (mutant). I know that you can have 1,2,or 3 degress of this. How would I find this out? My Mothers brother has it, his daughter and son both have it, and my niece was just diagnosed with it too. It was told to my sister that my mom, me, sister, and her youngest daughter probably has it too; because it goes in a straight line. I do know that my cousin had her kids tested and they did'nt have it. Should she have them tested again?
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2009-02-27 |
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Is it at all possible to be diagnosed as an adult with Sickle Cell Anemia? My son has a friend who has just been diagnosed and she is 19 years old. What prompted her to go was rectal bleeding which she initially attributed to recently giving birth. I have a few friends with children who were diagnosed at birth so for her to be diagnosed at age 19 is odd to me. I suggested that she seek a second opinion. Please advise. View Answer |
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2009-02-25 |
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I gave birth last month to my daughter who was born "still". I was 34 wks pregnant with a normal pregnancy. I did however, have high blood pressure at 34 wk appointment and remained high up to 3 wks post pregnancy. I had an autopsy done on my daughter and they found blood clots in the placenta. I am getting tested for blood clotting disorders. But after talking to a doctor I was told that my blood would have not been in the the placenta it would have been the babies blood and since our blood doesn't mix, if I had a clotting disorder it wouldn't effect the placenta. It also said on the autopsy report that the placenta was 50% infracted. What different things could have caused the blood clot in the placenta and the infraction? View Answer |
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2009-02-20 |
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Hello, I recently asked several questions regarding Hemoplilia, however I believe I phrased my last one incorrectly. If a mother is pregnant with triplets, and one of the babies has hemophilia, could another baby kick him/her, and cause bleeding or bruising? I understand fetal movement is normal, but would it be harmful for a fetus with hemophilia to be kicked by his brothers or sisters? My doctor/geneticist just retired, so I'm in the process of finding a new one, and I haven't been able to find any specific information online. Thanks. View Answer |
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2009-02-18 |
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Hello,
My wife and I recently learned that she is pregnant with triplets. Both sides of our family have had a history of hemophilia. I myself had it, though, amazingly, I was lucky enough to have a liver transplant. What are the chances that any of the babies will be affected by hemophilia? We're having 2 girls and a boy. Will both the girls be affected, or will they just be carriers? And with such a crowded womb, is it possible for one of the babies to kick another, and potentially harm him/her? I'm worried sick.
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2009-02-08 |
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My grandmother was diagnosed with hemochromatosis in 2000, she passed away a week after being diagnosed. She was my maternal grandmother. My mom, me and other family members had a blood test done to see if we had the disease. We were all told no, my question is should we be tested again since it has been 9 years or are we safe because we were told we didn't have it? If we should be tested again how often should we be tested? View Answer |
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2009-02-04 |
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I have several family members who have been diagnosed with and have had life-threatening dealings with Factor V Leiden Syndrome - Thrombophilia. I have read that it occurs in 3 to 8 % of the Caucasian
population. I have heard that of the Caucasians, it is especially among those with Norwegian heritage...up to 20%. Is this true and how could I find accurate statistics? Yes, my family are all of Scandinavian descent. View Answer |
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2009-02-03 |
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okay i have a sickle cell trait from my father and i have a beta thalesemia trait from my mother. with these two traits combined does that mean i have sickle cell disease? View Answer |
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2009-01-29 |
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My Grandfather died at 84 and Father passed at 70, both of non-alcoholic cirrosis of the liver. Word got around that this was an inherited disorder (from whom I don't know).
My Sister and I decided to have Hemochromatosis DNA checks done. My Sister came back as a carrier and mine came back as normal, and we still have two brothers to be checked.
I do realize that there are other disorders this could be however none of them fit in my Father's illness like hemochromatosis does, as he developed quite a few symptoms of it in his 50-60's, but was never officially diagnosed with it.
My question is that shouldn't my test came back as a carrier if my father had hemochromatosis? or possible skeletons in the family closet? View Answer |
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2009-01-22 |
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what are the chances of having the second child normal,when the first child is a thalassaemia beta carrier? View Answer |
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2009-01-19 |
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I have Leiden Factor V with positive CRP. I developed spontaneous DVTs last year which lead to this discovery. I take coumdain. I awake some days short of breath and feel as if my chest cannot expand. I am fatigued. I read an article about Leiden causing dyspnea. Maybe some of this is from the coumadin? My leg is also still troublesome but nobody feels I need to see a vascular specialist. I would appreciate more information as I am a RN and want to know the uncommon characteristics.
Thank you. View Answer |
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2009-01-16 |
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I have just been diagnosed positive for Facor V Leiden. A blood test has been done today to determine whether I am heter or homozygous. I had a TIA about 3 months ago.
My question is whether I should recommend my three sisters, mother and two children should be tested for the mutation.
Also - my father suffered from haemachromatosis - is there any connection between these condition?
Many thanks View Answer |
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2009-01-06 |
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My mother has hemochromatosis is homozygous C282Y/C282Y. As my father died thus no information available I have since diagnosed as heterozygous C282Y/H63D. Can you explain in laymans terms for me? Can the results from my tests give me an indication if my father was homozygous H63D/H63D or heterozygous H63D or compound like myself. He still has brothers living with families, do I need to contact them? I would be grateful for your answer.
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2009-01-02 |
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My husband,age 63, was dx w/Hemochromatosis 10 yrs ago. He has since developed: depression, hypercalcemia, polymalgia rheumatica/or/rheumatoid arthritis (verdict still out). He has swollen ankles and hands. He fell on his back on our flagstone walkway 3 years ago, which was when ALL of his arthritic symptoms started. The pain went from his spine and settled in his shoulders and hips.
He has phlebotomies once every 3 months.
Our doctor has told us that all of these problems aren't related to each other--I disagree and think we should go to a specialist at Mayo clinic.
Please give me your advice.
Thank you View Answer |
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2008-12-30 |
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Factor V blood disease runs in my husbands family and my son is having horrible nosebleeds. Should I be concerned about him and have him tested View Answer |
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2008-12-14 |
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I had a thrombophilia pannel done when addressing recurrent pregnancy loss. I tested positive for one copy of the C677T mutation and one copy of the A1298C mutation. I went on heparin and was able to have 2 children, 1 boy and 1 girl.
(1) Should I have them tested? and if so when.
(2) Is there any issue with me giving blood or marrow products?
Thank you!
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2008-12-03 |
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I have a brother with hemochromtosis with mutations on C282Y and S65C and a blood ferritin level of 1600. He has severe joint pain and often severe swelling of the knees and ankles. He is currently undergoing bloodletting. Will the pain in the joints persist after his ferritan is back in line? Will there be permanent damage to his joints or is it just a pain thing? Is the joint swelling a result of hemochromotosis? If he has liver damage, will getting the ferritin down within normal limits allow the liver to repair itself or is the damage permanent? View Answer |
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2008-11-26 |
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i am doing a Biology project on Hemophilia and am suppose to answer what tissues, organs, and organ systems are being affected by this disease and how. if you know any information about this it would be a great help. View Answer |
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2008-11-25 |
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My paternal grandmother died in her sleep at age 57 of a suspected cerebral hemmorhage although no autopsy was done. She was obese, had pernicious anemia, and thrombophebitis. My paternal aunt age 55 died last week of an autopsy confirmed massive PE. She was obese, and had c/o bilateral calf pain for 2 yrs. She had ultrasound, was on Lovenox, and wore compression hose. What if any genetic testing would you recommend for our family? I read about hyperprothrombinemia, and am curious if there are other potential genetic disorders which would possibly account for this type of issue? View Answer |
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2008-11-20 |
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I am 45 and was diagnosed with 1 copy of Factor V leiden and 2 copies of MTHFR, back in March. I am taking coumadin everyday and my INR is where my doctor wants it. I have passed on to my 17 year old daughter 1 copy of Factor V. My 65 year old mother just got her blood tested and also was diagnosed with 1 copy of Factor V and 2 of MTHFR. I am wondering what I should tell my mother and daughter to expect or do about their conditions. My mother has had 3 children and apparently has had no complications with her blood mutations is this normal. View Answer |
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2008-11-16 |
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Hemocysteine levels over the last year was 17. A new doctor tested me for the MTHFR Genotyping(c677T/A1298c) and the result was Homozygous for c677t and that I have 2 copies of the MTHFR c677t mutation. I am 33yr old female, what does this mean exactly? My doctor has my on folic acid 1mg per day to protect my heart. What other implications can this have on me? My sister has had 3 kids, my brother has had infertiliy problems. I understand from my doctor that my mom and dad have this mutation. Should they worry about it? View Answer |
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2008-11-08 |
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what is the relation between the baby who has thalasemia major with his family histories that tells you his parents are in good health but the fathers brother is mentally hendicapped.The fathers was born with cleft lip,which was repaired as a child?
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2008-11-06 |
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Since, birth i have known that beta-thalassemia minor runs in my family (mother has it, my brother has it and i have it). Aside from my mother is a carrier for G6PD. Of Which I was the only one to inherit that. Now recently I have discovered that I have Gilbert's Syndrome (basically high levels of bilirubin). Now I was wondering that following:
aside G6PD being passed on to any female children I would have, what are the chances of passing on the beta-thalassemia and gilbert's syndrome to possible children i would have? View Answer |
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2008-11-01 |
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Is an accurate test for the Factor V mutation or other blood clotting disorder possible while a person is on anticoagulants such as Coumadin and/or Lovenox? View Answer |
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2008-10-22 |
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At the age of 24, my youngest son was diagnosed with Favtor V Lieden after a scary trip to ICU because he was "throwing clots" and having a great deal of trouble breathing. He continues to follow up with a Hematologist and is taking medication and probably will so the rest of his life.
Two months later... my 27 year old son was experiencing pain in the legs and went to the Emergency Room where he was diagnosed ALSO with factor V Lieden.
I have been tested and I am a carrier.
I am adopted and know little about my biological father.
Supposedly I was conceived as a result of a "one night stand"
I have been told that origins of people from Italy, Greece, etc are more proned to this disorder.
What good. if any would it be to "open up" the adoption records and reseach this any further.? View Answer |
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2008-10-17 |
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I was diagnosis with beta thalassemia in 1995 at the age of 21. When I received the diagnosis I was in living in Denver, CO . Prior to that I grew up and lived in South Carolina. I was told that the higher elevation triggered what would otherwise have been a dormant formof the disease, and that if i had never moved to CO, I would never have know that i have the illness. How is that possible? What effect do high altitudes have in bringing on the onset of otherwise dormant beta thalassemia? View Answer |
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2008-10-13 |
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I am taking Human Anatomy and Physiology and we are doing a research project about the integumentary system. We chose to study Porphyria we where just wondering are there any current research that has a promise for helping people suffering from Porphyria?
Thanks View Answer |
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2008-10-10 |
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I was diagnosed about 7 years ago with Protein S Deficiency (factor II) and also Factor V Leiden. I have never gotten a very clear explanation of either diagnosis. My sister has been diagnosed with Factor V Leiden but NOT the PSD. Does Factor V Leiden go hand-in-hand or are they two completely different factors going on? Is my condition more percarious because I have both factors or am I just at a higher risk anyway for clots?
I had my first DVD in May 2001, June 2001 and my third in June 2002. Now on Coumadin for life.
Thank you.
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2008-10-07 |
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i was diagnosed 15 years ago with vp after suffering for years with skin problems. other than a stomach problem in my teens i've not had any symptons since treatment back then.can porphyria go dormant like this. i'm now experiencing severe pain in my left side under my ribs, shoulder pain and aching legs. my skin is itchy although not severely i've had pneunomia last year as well and eye problems namely a pterygium. can this be a resurface of vp and can the attacks be mild or do they only ever manifest themselves in the severest way. View Answer |
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2008-10-04 |
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Lab results indicate positive for one copy of C282Y mutation in the HFE gene. Negative for the H63D mutation. Result stated as Heterozygous for C282Y mutation with reduced likelihood of HH. One doctor tells me this is hemachromatosis, another says flatly that it is not. Liver biopsy showed only slight iron. Ferritin levels were high coincident with HCV which the one doctor says was the cause of the high ferritin. Do the lab results stated indicate HH or not? Both doctors are specialists and supposedly know what they're doing. View Answer |
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2008-09-30 |
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Hello. I was diagnosed with Factor 5 blood clotting disorder 5 1/2 years ago when I was pregnant. I was put on Heperin (injected into my belly two times a day) during my pregnancy. I have no history of having a blood clot. My question is this. I am wanting cosmetic surgery. Two doctors that I've seen dont feel its a big deal and will do the procedure (breast aug) in office. Two others will only do the surgery in a hospital. Is it necessary to have any sort of surgery in a hospital setting in case something relating to the blood disorder goes wrong? View Answer |
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2008-09-22 |
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I have (so far) 2 sons with hemochromatosis. One is c282y/c282y, the other is c282y/h63d. Both were iron overloaded at time of diagnosis. One had extrememly high levels by age 39 with possible liver involvement. My mother age 94 tested positive for double mutation of c282y but no penetrance. Her brother died in his early 50's of liver disease with no history of alcohol abuse. My brother was recently diagnosed with HH, also c282y/c282y and heavily iron overloaded. Also I have a sister c282y/h63d but once again, no penetrance. Neither I nor my husband have been tested because of insurance concerns. I am 100% Celtic heritage, my husband is mostly Lithiuanian with a little French. Is it possible the HH is coming solely from my side of the family? View Answer |
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2008-09-22 |
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I have been diagnosed with full on Hemochromatosis and suffer presently from severe iron overload. However, I have just received copies of my DNA tests and it states that I only have one mutated gene - H63D. I note in books that H63D in combination with S282C can be very serious but no one seems to get tested for this mutation is there any material to review regarding this new mutation and future plans for testing? Thanks. View Answer |
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2008-09-22 |
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I wanted to know what the developmental importance of the Hbb gene is? This is the gene that is responsible for beta thalassemia, methemoglobinemia, and sickle cell disease. I want to know how this effects development of the human being throughout the stages of their life.
View Answer |
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2008-09-22 |
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Is it advisable to take Omega fish oils when you have Factor V Leidon? View Answer |
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2008-09-18 |
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Hi, I have had chronic bruising, nose bleeds, headaches, joint pain and reacurrent misscarriages throughout my life. After genetic testing it was discovered I have a mutation of my Factor II as well as a Protein C Deficiency. On top of that I tested a high positive for anticardiolipin antibodies on a few different occasions and was finally diagnosed with APS as well. I have been put on Heparin to combat the issue.
What I am curious about is how these all relate. I am at abit of a loss as to understanding Factor II correctly. I know it puts me at a higher risk for DVT's but I have also read that it can make a person bleed into joints. My Physician believes in my case the joint pain was due to excessive bleeding (my hemocrit keeps coming back around 32%). I have noted that the joint pain has lessoned now that I am on 10000 units a day of Heparin. I guess I just would like abit more understanding as to how the clotting factors I have and the Heparin work together. View Answer |
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2008-09-03 |
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Can Polycythemia Ruba Vera be geneticaly passed on..is there a chromosone related with my disease...I know I can not donate blood because of it..but would like to know how or if this disease is transferable. View Answer |
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2008-09-02 |
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My friend just received a letter from the blood center stating that they screened his blood and found what they called sickle cell. He is 46 almost 47 years old doesn't this disorder usually only affect children. What should his next step be. He told me that he had been tested once before by a blood center and his dr. tested him again and found nothing. So, What's our next step.
thank you View Answer |
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2008-08-29 |
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Is hypercoag testing always accurate in children?
My brother-in-law recently died at age 36 from a massive Pulmonary Embolus, following an Achilles Tendon Surgery. He did not have a known clotting disorder. (However, he was an only child and his mother had 4 miscarriages) His 3 young children have had negative hypercoag panels. Should they be retested when they are older? (currently age 5,7,10) View Answer |
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2008-08-28 |
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I am a heterozygous carrier for Factor V Leiden. I have also been diagnosed with PAI-1 +4G/5G Polymorphism, hypothyroidism, a goiter, polycystic ovarian syndrome, and Graves Disease - all within the past 5 years. Less than 4 years ago I suffered from a pulmonary embolism and was treated. What lifestyle changes can I make so that I am not dependent upon medications and further risks for clots in the future? Thank you for your assistance. View Answer |
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2008-08-24 |
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Im 28 and have Factor V leiden mutation (both copies of my parent). I was wondering if i should be on coumadin as a preventable measure or do i have to wait until something happens(DVT or PE)....I have one child and nothing happend, but can i have another child??? View Answer |
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2008-08-24 |
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My wife has been diagnosed with essential thrombocytosis. Genetic testing showed she has a JAK2 mutation which apparently is causing her to produce to many blood plateles. What does the JAK2 mutation do? Is there a way to treat it. And should our daughters be tested for it.
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2008-08-22 |
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Hi, i was Dx with Factor V leiden mutation (inherited both copies of my parents).I got pregnant 4 years ago not knowing i had FVL, and nothing happend. But i was wondering is it safe to have another baby??. My sister had a big DVT when she was pregnant with her second child. And should i take an asprine once a day to prevent blood clots??? And one more thing, i have a lot of pain in my legs since i was little, can FVL be the cause of that??Doctors says its because i was growing, but now im 28 and still have those pain in my legs, im shure that im done growing....right???? Thanks!!! View Answer |
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2008-08-20 |
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are the risks of factor v lieben greater in females then males?
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2008-08-11 |
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I just was tested for Factor V Leiden and my test came back positive for one copy of the gene. Will I need to be put on a blood thinner or will I just have to get blood tests regularly? Also, this gene is on my dads side of the family and his mom has two copies and if I have one copy does that mean he has at least one copy? View Answer |
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2008-08-08 |
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I am a Canadian citizen with Factor V Leiden. I have had an upper-arm thrombosis due to cellulis caused by an unsuccessful attempt to donate plasma. At the time I was on hormone replacement therapy. What role could this have played on my developing a thrombosis? Because of this I am ineligible to donate blood. I want very much for my permanent deferral to be changed. Is there any research being done to nullify/counter-balance FVL? Is there a correlation between developing cellulitis and the thrombosis? Would I be able to argue that without the cellulitis I would not have developed the thrombosis? View Answer |
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2008-08-05 |
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My daughter is 34 years old and has had 4 strokes recently. She is now having seizures almost every day and is being treated by a neurologist who wants to do a test for sickel cell. She is caucasion and as far as we know there is no african american or hispanic in our background. How rare or is it even possible for her to have sickel cell? View Answer |
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2008-08-02 |
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there is a history of factor v in my husband's family. my neice is pregnant and asked her ob doctor to draw a factor v test on her and it was positive. is this an accurate test result when the person is pregnant? what precautions should be take as far as meds (heparin? baby aspirin? folic acid?) while she's pregnant? she's 16 weeks thank you View Answer |
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2008-08-01 |
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I am hetero Factor V Leiden and also MTHFR. Otherwise healthy female, not overweight, exercise fairly regularly. I have never had a clot but have had trouble with miscariages. Have a huge family history of FVL and blood clots on my mother's side ... including mother with arm clot, grandfather with multiple PEs, Uncle with DVT, cousins with multiple PEs, etc. I am struggling with whether or not to use Coumadin as preventative treatment. My PCP insists that I take Coumadin for the rest of my life to prevent a clot. However, I have had other opinions that do not feel I need Coumadin until I have a clot. My PCPs POV is that with that scenario he hopes that it is a clot in my arm or leg rather than my lungs or brain. Point taken! In your opinion, is prevantative treatment for my situation necessary? I am just not sure given the various opinions. View Answer |
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2008-07-31 |
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Hemochromatosis is in my family history. I have been tested and do not have it, but am a carrier. I have one copy gene. How much at risk are my children and grandchildren of getting this disorder? View Answer |
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2008-07-30 |
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i am minor beta thalassemiac patient.m marrying a normal man.will there be any chance of my children to get inherited with this gene.i want to get treated.where in india i can grt my treatment. View Answer |
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2008-07-27 |
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My 30 yr. old daughter has Factor V Leiden B Homozygous (2 defective genes). Previously she had two miscarriages. Her third pregnancy was successful with the help of Lovinox shots twice daily and her specialists. She is now considering a second pregnancy. What is her personal risk for survival? Another question, she takes 1 full aspirin daily. Her specialists said if she ever has a blood clot she will be put on Coumadin for life. Should she be on Comiden now? View Answer |
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2008-07-22 |
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My doctor has just tested me for Hemochromatosis due to elevated iron and liver levels, my mother has Hemochromatosis. My doctor did the gene test and called me and said that the test was inconclusive but he said he thinks I have it and is referring me to a specialist. What I want to know is what does a INCONCLUSIVE HEMOCHROMATOSIS TEST MEAN? I am not looking a answer as far as yes I have it/or no you don't. I just want to know what these results mean?? View Answer |
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2008-07-19 |
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My wife has alpha thalassemia and i wanted to find out if there is any increased risk for her when taking birth control pills, maybe an increased risk of blood clots??
View Answer |
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2008-07-18 |
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What needs to be considered when choosing contraception by a person with alpha thalassemia?
Does alpha thalassemia increase the risk of blood clots associated with birth control pills, or can these pills worsen the effects of alpha thalassemia (e.g. tiredness, general fatigue, symptoms of anaemia)?
Are there any other factors that should be considered which would have a detrimental effect on health if deciding to take birth control pills?
For the purpose of these questions I am referring to combined contraceptive pills. View Answer |
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2008-07-18 |
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Two days ago my mother in law called to tell me that she tested positive for Factor V Leiden, and her hematologist said that our daughter (soon to be 14) should be checked asap as she should never take anything hormonal (birth control, HRT, etc). I asked my MIL to ask her doctor if we had my husband tested and he was negative if there was a need to test our daughter. Her hematologist said yes. The hematologist said that while my husband may test negative for it, our daughter could still have it. I don't understand. If FVL is a genetic condition, and my husband tests negative for it, how could he pass it to our daughter? How can you pass what isn't there to pass?
I appreciate your response! Thank you!
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2008-07-16 |
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Greetings this fine day! I have three questions pertaining to one subject: Hereditary Sideroblastic Anemia.
1. What are the chances of a son getting this from his father who has been diagnosed with it?
2. What are the chances of the above son passing this onto his son, and is it rare to show up in a child? (In other words should I have my husband and our 4 year old tested?),
3. What is the prognosis of this disease if diagnosed with it.
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2008-07-11 |
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I am 25 years old female with sickle cell trait and my husband is Beta thalassemia trait. I heard about PGD (preimplantation genetic diagnosis) To prevent having kids with sickle thalassemia. What is the success rate of PGD? Are there any side effects for PGD?
Thanks View Answer |
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2008-07-08 |
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Is VonWillebrands Disease related to Fragile X, or more prevelent in people w/ Fragile X? View Answer |
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2008-07-06 |
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Dear Dr.
I was diagnosed with factor five blood clotting disored last year while pregnant with my third child. i had two of my children tested and my oldest boy was positive . his pediatrician knows nothing of the disorder and could offer me no advice on what to do. i can not find a doctor for myself either that even knows what i am talking about. what should i be worried about with my son. and what type of dr. should i be looking for? please help. View Answer |
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2008-07-04 |
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I have Factor V Leiden inherited from my mother. My 18 year old daughter is going to a doctor to discuss going on birth control before she goes away to college. She has not been checked to see if she has Factor V. Should I have her tested before she goes on birth control, or will she be ok on the pill just knowing the risks and then make sure she gets checked before she would decide to get pregnant. View Answer |
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2008-06-30 |
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If my husband has hemochromatosis, and I do not (and to my knowledge I am not a carrier), what is the risk of our children inheriting the disease? What is the risk of our children being carriers? Thank you. View Answer |
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2008-06-26 |
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My daughter has had tests done and we were told she had a platelet disorder. The way it was explained to us is that the platelet bleed at both ends, so they don't fuse and her bleeding time is 12 mins Can you tell us what this is called ? What can cause it. Is it genentic? and if so would it come from her fathers side or mothers. Or is it from both sides?
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2008-06-26 |
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Good day,
I was diagnosed with Factor V Leiden 5 years ago. I am 21 years old and I was told by the doctors that I can not use any hormonal medication such as the pill to prevent pregnancy.
I would like to know if I can however use the Injection?
I do not want to get a "Loop", but I would like to know if there is any alternative?
Hope you will be able to give me some advice?
View Answer |
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2008-06-25 |
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I have a history of recurrent miscarriages. I have been tested for Factor V, Protien S, Protien C, Thromosis III...basically everything. After visiting another specialist today, he wants to run another Factor V Leiden. He states he can't take results over 10 years old. After years of infertility, we have encountered some very hefty medical bills. Is this a condition I can develop? Would it be of beneficial for me to take this test again? View Answer |
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2008-06-20 |
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Dear Geneticicst
I have porphyria (EPP) and have been managing my condition throughout my life, i am 44. Recently found some information suggestion that the condition has it's root cause in a flaw in Chromosome 18. Has this been your finding and if so does it give light to any improvements in treating my condition.
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2008-06-19 |
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Is there any link to Von Willebrands Disease and bed wetting? Our 6 yr. old son's pediatrician is treating our son for the bedwetting w/ a medication that he has only been taking for 1 week. His urine test showed some blood in the urine. We also brought up his frequent nose bleeds (1-3/day sometimes) w/ sometimes a 3 day lapse w/o. He had some blood tests done on him & is suspecting VWD and has made an appointment w/ a hematologist for us. I also had an endometrial ablation 2 yrs. ago for excessive menstrual bleeding & anemia. My mother-in-law also had her nose cautirized as a child for excessive nose bleeds. My husband & his father also had nose bleeds as well as bed wetting issues until the age of 12. Is there any link between the issues? I've read that desmopressin is prescribed for bed wetting and for nose bleeds. Why? View Answer |
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2008-06-03 |
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My Dr. Says I'm a carrier. My mother's a carrier.
My father's not. My sister's Dr. says that she is a carrier. Her iron's elavated,she's giving blood to pull levels down. (we're both post menoposal.) As a carrier should I be concerned with becomming full fleged hemoc.
My Dr. saysboth parents must have the condition for me to be at risk. He also says my son isn't at risk unless my husband has the defect.
My sister's Dr. says just the opposite. It's her contension that if you'rea carrier you and your children are at risk of full hemochromatosis, regardless of their fathers diagnosis.
My mother's had 5 bypasses She tested positive.She's been on iron pills for several years for extremely LOW iron. (also has thyroid condition) Her Dr. took her off the pills, stating that with this condition she shouldn't be taking the med, even though her iron consistantly tests low when she's not on the pills. If Hemoc. is high levels of iron this doesn't make sense.
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2008-06-03 |
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Hello: I have several questions that I hope will all tie together some how. First when my daughter was born she tested positive for BART?s hemoglobin. Once she turned 6mths her doctor said her blood was normal and no signs of the BARTS. Since her 1st birthday she has been having low iron levels around 10.9 her doctor gave us iron supplements to give her. We have been giving her the supplements for 6mths and there has been no change in her iron levels. Is it possible that the BARTS hemoglobin never went away, or maybe it has return? If so why isn?t her doctor testing her for a Hemoglobin disorder? Also lately I have notice that her urine smells sweet. She is now 2 years old. Should I get her tested for MSUD and diabetes? IF she has one of those disorders could that make her iron levels low? View Answer |
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2008-05-21 |
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I am an ICU RN ,54yrs old,that has Factor V Leiden mutation,heterozygous dx in 1999 after I had a right leg DVT with bilateral PE's. I have 2 sons,33 & 31 & would like to know what are their chances of having this & passing it on to their future children? I have a 1st cousin,female,that has the same dx & has had 6 DVT's including all extremities. Should my 2 siblings & their children be tested also?
Appreciate your time! View Answer |
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2008-05-15 |
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Dear Geneticist,
I am a student of Phillips Academy Andover, in Andover, Mass.
I am researching PCT, Porphyria Cutanea Tarda, as you know PCT affects the heme production of a human. And therefore disrupts Hemoglobin synthesis. Since Hemoglobin is what gives red blood cells the ability to carry oxygen then shouldn't PCT and porphyria in general have some affect on the respiratory system, or lymphatic system? I have been searching everywhere, their isn't any database that speaks of any side effects on the respiratory system, only in the liver and the skin.
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2008-05-04 |
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My Grandmother and mother recently have been diagnosed with factor V leiden. I have not yet been tested but was wondering if my grandchildren could also have this even if I don't show positive for it? I had a grandchild die at 29days old from a blot clot in his brain. He had a traumatic birth and they know had some clotting issues. The coroner never did any tests for bleeding or clotting disorders and didn't save any tissues for the family to have additional tests done. They had no idea why he had a DVT in his brain maybe this would explain it. View Answer |
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2008-05-03 |
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Hello,
I am trying to conveive and my niece was diagnosed with a rare form of the MTHFR deficiency. My sister's geneticist told her that there is not a test to tell if I am a carrier. Is this true? We have been trying to conceive for 5 years and are going through IVF. Please let me know if there is a test that I can have done to see if I am a carrier.
Thanks.
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2008-04-28 |
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I am a 24 year old female who is homozygous for Factor V. I was diagnosed some years ago after I developed a PE when I was 19. I was immediately taken off birth control and have not taken it since. Recently, I have been having some reproductive issues, including extremely painful cramps (think emergency room). I am currently in a working clinical diagnosis, but my doctor is recommending a progestrone-only pill as treatment. Needless to say, I am extremely uncomfortable with this. I have done some reserach though, and it seems that progestrone-only pills are not associated with clotting. However it also seems that this notion seems to be a result of a general lack of research in the area. Can you tell me whether there have been any new studies on the relationship between Factor V and progestrone pills? Please and thank you!!! View Answer |
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2008-04-28 |
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I have recently been diagnosed with factor v leiden (g1691a, heterozygous). In addition to this the thrombophila panel returned heterzygous for PAI-1, B-fibriongen, and homozygous for factor xiii. (Remaining items, MTHFR, prothrombin, and HPA-1 were all normal). I found this out after 3 failed ivf cycles. Though age is a factor, my reproductive endocrinologist does not think this is an embryo quality issue but an implantation issue. Is there any literature on the connection between factor v leiden and ivf implantation failure? Is a visit to a hematologist the next step? (One further note, my 4th ivf cycle in which I was on heparin, aspirin and folgard also failed.) Any information would be greatly appreciated. Thank you. View Answer |
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2008-04-26 |
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What relevance or complications can dental treatment have on a person with thalacemia(both types). Is there problems with them having local anaesthetic or extractions. View Answer |
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2008-04-21 |
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I have A friend who is suffering from TPP. It came 2yeras ago, last month and now weelky. His platelate count go down as low as 4000. He is getting plasma exchange. They are recomending him to Chemotherapy before considering removing spleen.
What is your recomendation? Desparate in need View Answer |
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2008-04-19 |
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My grandmother found out a few years ago that she had Hemochromatosis and suggested that her children be checked for it. Of her seven kids, one of my aunts, one of my uncles, and my father all turned out to have the genetic disease as well. I was wondering- should I be going to a doctor and asking to be checked for it? I was told that my depression (a long term condition), general fatigue, loss of sex drive, and other symptoms I have complained of for awhile could possibly be connected to the condition. Then again, I know they might not be related. So I guess I'm wavering: should I go see a doctor, or am I worrying about nothing? Is it better to just check? Thank you. View Answer |
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2008-04-07 |
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My husband has Thalassimia Beta Minor. Our 8 year old daughter was diagnosed with it as well 2 1/2 years ago. My husband's brother, nephew, mother, and 1 aunty also have it. I requested a test from numerous doctors before we got married and kept getting refused as I was 3rd generation Australian (with UK backgound). It wasn't until I said that my husband was from the UK that I was reluctantly given the test. I was given the all clear - apparantly. I was reading some of the syptoms on another website and it more describes me than my husband and daughter. My question is -do both parents need to carry the gene to pass it on or can it be passed on from only 1 parent. I now worry that seeing as I had to fight to get tested that maybe I wasn't tested properly or at all. We can't seem to get much information out of our doctor's View Answer |
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2008-03-31 |
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Dear Sir,i have married last april 07. marrge time i hve not knwledge about Sickle cell after one month my wife is affected by Typhoide and Joindic
that time blood test i know about sickle cell. In my in laws family three member are affected with sickle cell.
My In Law family telling after marrige she is affected anf through my self . In my family total six member but no body having this deases . Kindly confirm me i am the responsible for this deseas to my wife.
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2008-03-29 |
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I have porphyria. The guess is VP or hereditary coproporphyria and maybe duality with EPP. The standard porphyria testing is archaic and lab mistakes are rife. At great individual cost, many have gone to the lab in NY for genetic testing only to be told incorrectly that they tested negative for porphyria. What do you do differently and can you do better? And at what cost? View Answer |
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2008-03-20 |
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What is the probability to have porphyria? View Answer |
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2008-03-15 |
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I AM 55 YEARS OF AGE. I HAVE BEEN DIAGNOSED WITH HYPERTENSION, PSORIATIC ARTHRITIS, DIABETES, FIBROMYALGIA, ETC. MY MATERNAL GREAT UNCLE HAD
HEMOCHROMATISIS, TWO OF HIS GRANDCHILDREN HAVE THIS DISEASE ALSO. MY SON SHOWED A HIGH FERRITIN LEVEL AND LIVER FAILURE. MY DAUGHTER IS EXBITING SIGNS OF HEMOCHROMATOSIS AND HAS HAD TESTING DONE FOR IT. I WAS TESTED 20 YEARS AGO FOR THIS. I HAVE DEVELOPED THESE DISEASES SINCE THEN AND I AM DISABLED. COULD HEMOCHROATOSIS HAVE CAUSED THIS? View Answer |
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2008-03-12 |
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My husband and I have Beta Thalassamia trait with same mutation. Question is:1. Can we have more than one mutations for Thalassamia? 2. When our child is tested, do the lab needs to test both of us also and what kinds of test will be done? 3. Can he inherited a different mutation than us for beta thalassamia? Thanks for any help with these questions.
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2008-03-09 |
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My father has haemochromotosis and is now being treated for it by having blood removed on a regular basis.
I told my doctor about this and requested to be tested to see if I had it. I am 39 years old. I got back the following three results Ferratin 67 Serum Iron Level 24.2 and Transferrin 2.2. I was told that two were normal and one was acceptable and no futher information despite asking. I thought that the Transferrin figure was supposed to be a % figure. Are my results ok? Does this mean that I don't have heamochromotosis and don't need to look into whether I need the genetic test? View Answer |
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2008-03-06 |
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I am now 41 years old, was diagnosed with hereditary hemochromatosis three years ago, and have been having phlebotomies regularly. Recently, during my vacation in the States, I had my annual physical, and found that my iron levels were too high, so my doctor wrote me a prescription for a phlebotomy. However, when I had my phlebotomy done, I was stuck both time, and both times, my blood clotted so badly I had to wait another couple of weeks so I could take aspirin to thin out my blood before I finally had a phlebotomy in China. My question is this, what is the relationship between hemochromatosis and blood clotting, and what can I do, if anything, about blood clotting? View Answer |
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2008-03-03 |
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I am homozygous for Factor V Leiden mutation. In general, what medications should I avoid? View Answer |
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2008-02-29 |
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I have beta thalassemia minor and have been told by several doctors that they can do nothing to help me. As a matured woman I am particularly concerned about by health. Are there any specific foods that I should eat to boost my energy level? I am very careful with my dietary intake, but most times I lack that extra energy. View Answer |
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2008-02-27 |
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sir, i am a carrier of genotype AC and am about getting married to someone of the same genotype AC. what is the implication? am i going to get children that are CC? what are the chances? and also what are the health implications of a child bearing CC.
finally sir, do you advice i go ahead with the marriage? considering the health implications. thanks View Answer |
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2008-02-27 |
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MY oldest son has low factor 11 or XI. He also has factor VIII, or Von Willabrands. My second tested fine. My 3rd son has low Factor VIII also. My 4 a girl hasn't been tested yet. I had bleeding problems through my pregnancies. My Blood clotting test they quit timing at 15 min. Every test has been run and my Factor VIII is a low normal. My Mom was tested and she does have Von Willabrands. The twist is after many years of testing, I am not where my kids got the bleeding problems they have. My husband was tested and he has low factor 11 and low factor 8. My husband and Mom have had many surgeries and had no bleeding problems. They were tested for me. My sister in law and her children all have the same problems. How serious is the factor 11 his level I believe was 42. He has breathing trouble with his nose and would like to have it fixed. He had his wisdom teeth out and had no problems. Is there a web site started that connects families of people with bleeding problems like factor 11. I did my Gen. after having my kids and found my Mom and father in law are related back about 8 generations. My father in law had low factor 11 and 8. In Maryland in the 1700's A brother and sister came with there parents. They had come over from England Very wealthy and related to the royal families. They intermarried to keep wealth in the families. You had to marry at your level or status. There has been an explosion of people diagnosed in the last 22 years. I believe a lot of this is the spreading of the families that are distantly related. My sister in law in doing testing found her husband also has low factor 11 and 8. I am almost positive If I tried I could connect him to the family tree, by blood. Are there any studies like this being done. I would love to find out View Answer |
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2008-02-25 |
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My father died in 1992 at the age of 41. The onset of his illness to death was only a week. He was diagnosed with TTP. I am concerned as to the likelyhood of this disease being hereditary. To my knowledge, there are no other cases involving a family member with this disease. Is this hereditary? What are common signs of the condition? What are some proactive steps I can take to determine if I do have it? Any information would be greatly appreciated. Thank you. View Answer |
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2008-02-23 |
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i do have cystic fibrosis, severe case of alopecia areata, i was recentlu hospitalized and thye found excess od iron on my blood, how posible is that i get hematomachrosis? View Answer |
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2008-02-22 |
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What percentage of Hemophiliacs have Hemophilia A vs. Hemophilia B? View Answer |
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2008-02-20 |
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My 16-year-old stepson has beta thalassemia minor. He wants to donate blood for his high school's blood drive. Is it safe for him to donate blood? Does this condition disqualify him as a donor? Please advise. Thanks. View Answer |
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2008-02-18 |
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If a student has been diagnosed with alpha Thallsemia trait - could this have an affect on his cognitive ability? He is very short and petitte. He has significant speech and auditory processing deficits. He almost fits the profile of a child with sickle cell. If he was diagnosed with this at age 12, is it possible that this disorder could have caused this cognitive impairment? View Answer |
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2008-02-15 |
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My son's PKU test showed a presumptive positive result for Bart's Hemoglobin Trait.The type of hemoglobin he has is passed from the parents genes.His other hemoglobin types are all normal.He is 5 months old,and has an upcoming heart surgery this month for a heart condition called Tetrallogy of Fallot.He will be needing some blood transfusion and i would like to donate some blood. My concern is, because as far as I know if Bart's hemoglobin is combined with another abnormal hemoglobin gene, it can result in a disease.Also, with direct blood donation from parents or family members also include the potential of disorders caused by genetic similarities.Is there any possibility of me passing any type of abnormal gene that I may not be aware of that can cause my son to get some type of disorder if I donate blood to him? Would you recommend for me not to donate blood to him just to be safe?I would apreciate your response as soon as possible, before making arrangements with the blood bank. View Answer |
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2008-02-14 |
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In 1984, my son was discovered to have Hemoglobin Zurich. This discovery was made after he suffered a crisis from being prescribed bactrim. He was 4 years of age at the time. In 1992 he suffered another crisis after pyridien was prescribed.His daughter has the same blood disorder.
Most doctors are not aware of the side effects medications have on this blood disorder. February 5, 2008 he had emergency surgery. The doctor was very upset that I did not have a list of medications he could have/could not have. Is such a list available, if so, how could I obtain it? A major illness or accident could mean life or death. What form of ID notification alert he could carry in case of an emergency.I would appreciate any information you could give.
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2008-02-10 |
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Fractionated Blood Plasma Total Porphyrin Test shows only elevated Coproporphyrin. Homozygous MTHFR, 4G Polymorp, Chronic slight Elevated Factor VIII, Beta 2 Glycoprotein IgM ,Igm Immunoglubulin) (high LDL,and HDL. Small fiber nerve loss/chronic illness ,Multiple Drug reactions, Vit. D 25 Supplement(under 400 units) induces elevated ionized calcium. When only elevated Coproporphyrin shows on Porphyrin blood panel is this only significant for HCP? or other things and would HCP interfere with metabolizing pathway of Vit D25 and corticosteroids,and would any of these things cross react with JAK 2 test to induce spike against background noise . Thanks for any information you can provide. View Answer |
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2008-02-09 |
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I have a male friend with AA genotype but ia a carrier of beta thalasemia and he wants to marry a lady who is AS what is your advice. View Answer |
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2008-02-05 |
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I HAVE 3 OLDER BROTHERS-TWO HAVE BEEN TESTED FOR HEMOCHROMATOSIS, I HAVE ALSO BEEN TESTED.ONE BROTHER HAS C282Y TWICE AND HAS TO GIVE BLOOD MONTHLY. ANOTHER BROTHER HAS H63D TWICE AND FOUND OUT FRIDAY HE WILL ALSO HAVE TO START GIVING BLOOD, HE ALSO FOUND OUT HE HAS SOMETHING WRONG WITH HIS BLOOD (COAGULATION) AND WILL HAVE TO TAKE BLOOD THINNER FOR THE REST OF HIS LIFE. I HAVE C282Y AND H63D, I AM 42 AND GOING TO HAVE A HYSTERECTOMY. I WAS TOLD WHEN I WAS DIAGNOSED (2001) THAT I MAY OR MAY NOT DEVELOP HEMOCHROMATOSIS, I POSSIBLY COULD WHEN I WENT THROUGH MENOPAUSE. CAN YOU TELL ME WHAT MY % WILL BE? MORE THAN LIKELY, YES-NO?MY PARENTS HAVE NEVER BEEN TESTED. MY MOTHER AND 3 OF US ARE ALSO DIABETIC. I HAVE AN IRREGULAR HEART BEAT-BEATS TOO FAST-DOCTORS DONT KNOW WHY, I AM ON MEDS TO SLOW IT DOWN. I ALSO HAVE BLACK OUT SPELLS AT TIMES-DOCTORS DONT KNOW WHY. THE MORE RESEARCH I DO, I SEE MY SYMPTOMS IN THE HEMOCHROMATOSIS LIST.ANY HELP WOULD BE GREATLY APPRECIATED.THANK YOU. View Answer |
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2008-02-04 |
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I have an African patient who came in asking what the risks are if + for a recessive gene for sickle cell. I am not certain, I am a family practitioner. I would appreciate any assistance you could offer. Thank you. View Answer |
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2008-02-04 |
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i was just diagnosed with a couple of things, protien c , mthfr, lipoprotien a , and factor vIII, what does it mean having all of these things at once, i have had a couple of deep vien thrombosis and am on coumadin what should i expect in the future? I was told by a genetics dr that at work i should stand up and move every 15 min, i sit for more than 8 hours a day at work, is this true, and if traveling shouldnt sit for more that 30 min at a time, i really need some advice on this, and would appreciate it thankyou View Answer |
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2008-02-02 |
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hello sir/ma,good afternoon to you.I am a guy of 21 years old and am suffering from this sicklecell anaemia.i am currently in nigeria and i come from a poor family.this as affected me alot because my parents cant afford to buy me some drugs.The drugs i used at home are paludrine, folic acid and b complex.Sir, i want you to kindly enlighten me on what to take daily to make me live above 50 's and more.also, i am having a symptoms right now.any time i want to pass out faeces in the toilet, a whitish liquid or some times yellow do comes out from my pennis and i dont know what kind of drug to take .ill like to know more about this and kindly tell me some drugs for the anti pain and anti malaria.thank you View Answer |
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2008-01-31 |
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my son has been on penicilin, 1 spoon 2ce a day since he was 4 weeks old, he has never had any crises and am terrified cos i reall y dont no what the signs look like, i just moved to st paul, and ve been waiting on medical assistance for 3 months, he had chicken pox , but he had a very quick recovery without any medication, even though i took him the er, my question is that is he going to be ok? and is he going to be on penicilin for the rest of his life? he doesnt look as if he has sickle cell thalesamia, I have the trait but my husband doesnt, pls help me understand better, cos i feel guilty, when he cries , i dont no what the matter is , after i must have checked his diapers and fed him,. he is almost 13 months old on the 6 of feb View Answer |
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2008-01-30 |
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I am south african with afrikaaner in my family living in aus. my mother had porphyria type symptoms since 26 ( acute attacks) I started having them 46 (270 in last 7 years) my 3 children in their 30's are having them. for the 1st 3 years they tried to find a diagnosis. I came up with vp and started to live as a vp with far fewer attacks I am now on ativan on a daily basis but still have no diagnosis, when in attack I shut down both sides (nothing in nothing out) except for the vommiting and my bladder won't release till the end of an attack so have never been tested in attack. the few tests have all come back neg so docs won't consider vp.tried the Sydney centre asking for dna for the r59w but told to submit tests not in attack so neg.head of Sydney Clinic refuses to test dna ( will pay for my tests) and have begged and pleaded I and my family can't go on like this 270 attacks with virtually no treatment the damage is mounting up any suggestions. View Answer |
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2008-01-27 |
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I have the C282Y/C282Y gene. I have 7 siblings who all claim they don't have the gene. Is this possible? I am treated monthly with a phlebotomy. All my siblings are over 40. I don't think their doctors are testing them properly. Also, would both my parents have the gene? View Answer |
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2008-01-22 |
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What are typical H&H levels you see with thalassemia minor and major? Are hemaglobin levels of 9 and crit levels of 29 too low to only indicate thalassemia? Also, is the severity of the anemia indicative of minor or major? If you are a carrier for thalassemia are your H&H values neccessarily altered on a CBC or can they be normal?? View Answer |
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2008-01-19 |
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What is the probability of giving birth to someone with sickle cell disease? View Answer |
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2008-01-17 |
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My partner has been diagnosed with ITP. The bone marrow was perfect, so the hematologist says the platlets are being made but then destroyed in the body. He now wants us to go to the hospital to have a blood type done? what significance is this in ITP? View Answer |
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2008-01-15 |
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is it possible for your child to have sickle cell(trait or anemia) if the farther has sickle cell anemia but the mother has no trait at all? View Answer |
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2008-01-15 |
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as refered I am parent of a hemophilic -A child (suffering from genetic problem) Most probably my wife is the carrier.Though her family background has no apareint history of it.Now my child is 13 , some how I have manage to keep him Physically fit till today,I don't know the future but I remain anxious 24 hour for him, You people the only hope when you are bringing a good news for his clinical treatment.Numerous people arrount the world are seeing you people. Please reply. View Answer |
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2008-01-12 |
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I have a 4 month old patient who has a family history of hemochromatosis on the fathers side. (Mom just told me today). I was wondering if I need to do any testing at this time or treat this baby any differently then others. Is iron fortified formula and baby cereals ok? View Answer |
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2008-01-11 |
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My sister in-law was just dx with Factor V Leiden, she has experienced a DVT and is under going anti coagulant therapy. I am concerned for my daughter. She is 25 has been taking OCPs for several years, began them to help control her migrains (which were associated wtih her mentrual cycle). Should she get tested for Factor V, and if positive, should she discontinue the use of OCPs. Thanks
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2008-01-11 |
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I am doing a paper on Porphyria and I've researched but could not find a definite answer to the following questions.1. What is the life expectancy of someone with the disease?2. What limitations does the person have?3. How possible is it that a cure will be found?If you can help me that would be great, however, I will continue to search for answers to the above questions. View Answer |
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2008-01-07 |
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After my daughter being born at 27 weeks due to preclampsia, it was discovered that I had Factor V Leiden and prior to her discharge from the NICU she was diagnosed with homocysteinuria. I'm reading that these may be related or caust complications when both are present. My question is should my daughter be tested for Factor V Leiden? We were referred to a geneticist who "cleared" her as the homocysteinuria was thought to be a side effect of of preemie formula and not a "real" issue. What should I do......and should I be concerned? View Answer |
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2008-01-05 |
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my friend died 2 years ago from this disease (heamochromotosis) and i have recently had another friend whom is very close to me diagnosed. i am extremely upset about this and need to know if it always fatal or is there a cure? please put my mind at ease View Answer |
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2007-12-26 |
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My oldest son passed away in March of 2007 due to Auto Immune Hemalitic Anemia and I have a nother son with the same parents and is 4 years old is there anyway that he could also aquire this anemia? Is it hereditary? Please let my know any information you may have on it. Thank you
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2007-12-13 |
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Can T.T.P. be a false signal from the immune system to stop a hemmorage. I hemmoraged terribly after giving birth and developed T.T.P. 5 days post partum. I now see that TTP can be a complication of using anti bloodclotting/platelet meds such as Plavix , Ticlopodine Heparin. Could ttp be a so-called defense mechanism against bleeding to death or the body's perception of dangerous bleeding ? Could it be a reaction that turns out to be as lethal as hemmoraging. View Answer |
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2007-11-21 |
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Would being heterozygous for Factor V Leiden make it inadvisable for me to have any elective surgery performed ? ( eg a partial face lift ? ). Apart from having Factor V Leiden I appear to have no other risk factors ( don't smoke, slim, power walk 4 miles every day, don't have diabetes or any genetic problems apart from Factor V, no history of any clots in either myself or my father, who presumably was the carrier in my family, and I maintain a healthy diet ). I am 49 years old and female. View Answer |
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2007-11-13 |
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While I understand the inheritance of hemophilia is X-linked recessive, I have never heard of a female with hemophilia. How often does this happen, and what is the prognosis for these affected females? Does menstruation occur in affected females, and if so, is it more severe or life threatening?
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2007-11-04 |
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I have been diagnosed with the MTHFR mutation, which I know a lot of women suffer from. I have had 6 miscarriages so far and am only 25 years old. In my particular case, however, my MTHFR gene is both homo and heterozygous. I work for one of the best teaching hospitals/universities (Creighton University Medical Center) in the country and none of the doctors there have even heard of such a thing. They are doing a case study on me, but last I heard, they haven't really figured anything out. I am trying to do my own research on it, but haven't been able to find anything related to my particular situation. If you have any information, any thoughts, or even just links to websites that might provide me with more information, it would be GREATLY appreciated. I thank you for your time and help.
Thanks again! View Answer |
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2007-10-27 |
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My dad who is 76 years old was just diagnosed with TTP. He is now being treated by plasma exchange QD. Can you help me find out if something in particular triggered this illness. The only thing he has been doing different is drinking the new cholesterol lowering drinks named "Promise activ" it has plant sterols in it.
He also was injected with contrast dye to take pictures of his eye, because he said that he had partially lost sight in his left eye, and was diagnosed with a vein occlusion. Treated with a steroid injection directly into the eye.
This injection was on Friday the 19th of October, he had stroke like symptoms on Sun the 21st of October. He steadily went downhill from there. He was rushed to the hospital, lab work revealed he had a PLT count of 14,000 and his HCT was 8. He was running a fever and he was confused unsteady with slurred speech. Do you think that any of the above mentioned items were a contributing factor to trigger this TTP?
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2007-10-27 |
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Does the fact that I have hemochromotosis mean that I am actually related to every person I meet who has this condition? If so, wouldn't that mean that the genetic mutation which causes the condition occurred to one individual and that all persons with the condition must be descended from that person?
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2007-10-25 |
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At age 34,I developed ttp 4days postpartum after my 3rd baby. I had 2 relapses within 18months. Disease free for 3 yrs now. Ihemmoraged terribly after delivery and had to be given medication. Could the antibody developed as a defense mechinism to stop hemmoraging. I ask because of the link between plavix and ttp. would it develop while using plavix due to the body mistaking a slippery platlet problem/possible hemmorage?
Ticlopidine is also a drug linked to ttp(another anticlotting agent). I do not have familial form. Huge amounts of antibodies were detected . Can the immune system mistakingly make an antibody to destroy the enzyme that assists in the cleavage of adamts13 in order to promote clotting in cases such as delivery related hemmorage/plavix use? does this make sense? Can a person with a history of relapse stop relapsing.
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2007-10-23 |
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hello I have been diagnosed as having homozygous c677t mthfr mutation and have experienced 2 miscarriages. After the last miscarriage my husband was tested and also has a homozygous c677t mthfr. I am trying to find out information regarding the possibility for us to produce a viable pregnancy. The only thing my Drs have said is that our potential child would also be homozygous. Any information you can give me would be greatly appreciated . Thank you View Answer |
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2007-10-12 |
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my brother is having sickle cell anemia disease,
he is 14 years old,
till date there is no health problem(eg. frequent pain due to this disease,need for blood transfusion..) he's facing... but only once he faced sudden back pain...
so i wanted to know that will he be able to live normal life(live normal life span)??
n what care should be taken??
which type of food he should he eat and which type of food he should avoid eating??
thank you... View Answer |
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2007-10-12 |
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Can you please tell me the implications or effects of someone with Factor V Leiden with chronic ITP at the same time? Treatment for the ITP has caused bi-lateral DVT's in my partners legs. View Answer |
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2007-10-05 |
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I'm a black woman with the Factor V leiden mutant gene. I have a history of CVA at 28 and other thrombotic episodes of th eye. What are the chances that my daughter may have the gene? Should I be concerned and not have her take the pill? View Answer |
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2007-10-04 |
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My sister was diagnosed as being a carrier of hemochromatosis, does that mean that all of the siblings as well as her children should be tested? Does our mother need to be tested? Everyone is not taking the news to well and I am trying to aleve their fears as soon as possible.
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2007-10-01 |
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I would like to find out that my sis-in-law who is in her 4th month pregnancy was discovered and confirmed to have beta thalassemia minor. My brother was called by the gynae to have his blood tested to. I knew that our family do not have this. My question is :if my brother is tested negative i.e. not suffering from thalassemia, will the baby be affected? if yes, what is the percentage or likelihood that the baby will inherit thalassemia from his/her mother who is a carrier of beta thalassemia minor.
My sis-in-law and brother are very worry and appreciate if you could let us have your advices. View Answer |
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2007-09-27 |
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How does the factor 5 leiben mutation affect fertility in men? View Answer |
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2007-09-24 |
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can a adult with hemochromatosis ,is there any link to this and obesty ..? View Answer |
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2007-09-21 |
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My son, 12, has been diagnosed with severe aplastic anemia, along with a cytogenetic issue. He has an extra chromosome 3 in 12% of the cells measured using a FISH test from a bone marrow biopsy. The procedure, originally performed on 8/9/07 will be repeated on 9/13/07. What is known about an extra chromosome 3? View Answer |
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2007-09-12 |
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My Husband and I are both carriers of a beta thalesima trait. We want to have a child and would like to know if there is anything we can do to reduce the risk of our child having beta thalesima. View Answer |
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2007-09-06 |
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my husband was just diagonosed with Hemochromatosis; blood tests were positive for the homozygous presence of the H63D mutation in the HFE gene. Negative for the the C282Y mutation.I've been reading about this disease and all though most of the information is the same, what scares me is that I'm reading he could have liver cancer and if it hasn't been caught in time and his organs are damaged then there is no fixing them etc. etc. How long would this iron build up have to be there before it starts to damage the organs? I'm a nervous wreck View Answer |
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2007-09-06 |
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My husband has Hemochromatosis. My son was just tested and came back with compound heterozgotes c282Y & h63d. Did he get this from my husband or am I also carrying the gene since he got both? View Answer |
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2007-08-21 |
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I am 50 years of age, female and was diagnosed with Variagate Porphyria last year, having suffered symptoms for more than 25 years, mainly blistering on hands and face. My brother was the first to be diagnosed following symptoms such as blistering which first appeared two years ago when he was 43.However my brothers blister sights are very different from mine, his being much bigger and black whereas mine are small and red.After genetic testing my mother was found to be a carrier not my father. Having no known connection with South Africa for as far back as i can trace in the family, 5 generations, i wondered how this condition has come about in the family, and is there any evidence that the condition worsens with each generation.I am trying to persuade my three children who are in their 20's to be tested but they choose not to, although one was diagnosed with irritable bowel syndrome when she was 13 yrs of age. It causes severe stomach cramps and constipation, with her bowel going into spasm and she has had to have an injection several times to relieve the spasm. If she was diagnosed with VP are there any foods apart from alcohol she should avoid. Also are there any complications linked to pregnancy with VP. I look forward to your reply. View Answer |
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2007-08-16 |
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can Beta Thalassemia be transmitted sexually? View Answer |
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2007-08-08 |
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I wrote to you previously about my 26 y.o.daughter who had a miscarriage in the 5th month of her pregrancy and your response was rather disappointing as you reiterated what is in the lay literature with regard to folic acid deficiency. I now have more technical information, that is, the chromosome is:MTHFR (ic677t) gene, that is abnormal. I have several questions: How does this gene cause folic acid deficiency? Is this a dominant or recessive gene?How prevalent is this in various ethnic groups? Will megadoses of folic acid correct the affect of
this gene? Are there any side effects of taking megadoses of folilc acid? Is it necessary for other siblings to be tested for this genetic problem?
I hope you will give me a comprehensive indepth answer as I have a medical background but not in genetics.
Thank you in advance for your assistance in this matter. View Answer |
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2007-08-06 |
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Can I be a carrier of hemochromatosis if my father has it but I don't. I am a carrier of hemophilia A and I know that any male child I give birth to has a 50% chance of being a hemophiliac does this apply with hemochromatosis?And is a liver transplant a possibility with a pt with hemochromatosis?
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2007-07-25 |
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Hello, I have Porphryia Variagate and I exibit the symptoms especially around menstruation. My question is why is it more difficult for women with this condition than men? Is it because of hormones? Also, it seems that this disease causes problems in the mitochondrial matrix and I was wondering if this causes individual mitochondria to be transformed at a microbiological level rather than changing all at once on a massive structural level because of environmental factors (sun, diet, drugs)- meaning there is a possiblility that the heme steps were "normal" then became changed because of cause and effect or a chain reaction. I know that heme is built up in the system like a toxin and for me, onset of menses seems to relieve symptoms but there is no way around this every month. Is the DNA in mitochondria different from the DNA in a cellular nucleus? I am wondering which one is transcribing the mitochondria to change heme production into VP. View Answer |
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2007-07-25 |
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I am a 21 yr old female, and Leiden Factor Five, and other blood clotting conditions run in my family (Both my grandmother and my older sister both have leiden factor five). I just recently have be considering Birth Control as a contraceptive, is it a necessity for me to get tested for this condition? If it is, approximately how much does this test cost, and would insurance be an option for coverage of the cost. Thanks so much for your time and effort View Answer |
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2007-07-15 |
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I have been found positive with the Factor V gene mutation. My mother has been tested and doesn't carry it, but she has had a blood clot in her leg. Can the gene come from my dad? View Answer |
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2007-07-13 |
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My maternal grandfather had hemochromatosis. My mum is not a carrier but my brother is. Can the gene skip generations or does this mean that my father (whos dad did pass away from liver cancer) must be a carrier? View Answer |
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2007-07-12 |
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My gradmother recently passed away due to complications from TTP. We were told it was caused by the quinine she was taking for her leg cramps. I have heard that the use of this medication had been stopped. Is this correct? I am having a difficult time finding exactly what I want on the internet and thought maybe this is something you could help me find out. I would even be greatful for a point in the right direction. Any help is greatly appreciated. Thank you. View Answer |
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2007-07-03 |
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Do both parents carry the gene in order to have a hemophiliac child? View Answer |
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2007-07-02 |
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I have variegate prophyria and am going to have a procedure done in the hospital. I would like to know if these two drugs, that will be used, are safe for me. They are Fentanyl and Versed (valium). Thank you. View Answer |
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2007-06-20 |
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I was wondering if you could die from HbS diease? View Answer |
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2007-06-18 |
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My niece recently found out that her infant daughter and husband have Hemoglobin Zurich. She has been told that the protocol for dealing with this disorder is similar to that of G6PD. I am trying to help her find resources/information on this condition. Is there any more specific (to this condition) information available that could help this family to know how to live (well) with this disorder? View Answer |
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2007-06-12 |
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I think i might have porphyria, my face gets very red and blocthy and itches like crazy when i get in the sun, and it is getting worse as time goes by and sometimes it does it with exercise or a hot shower.I have been to the allergy docter which allso is a immune specialist and i have been taking loratidine, it helps my allergys but has not helped me when i get in the sun any at all, it allmost seems worse. all they told me was to get a picture of my face and bring it to my next appointment, but i never know when it is going to happen. It i sweat which i very rarely have done in my life it is much worse.I have allso been told i am of mixed race called melugeon and that i have fybromyalgia and plmd i do not know how to find out what is wrong with me .Can you help me in any way. i would deeply apreciate it. View Answer |
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2007-06-10 |
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My father, who is deceased, had hemophilia so I know I am a carrier and that my adult daughter, who currently has no children, has a 50% chance of being a carrier. I have three questions: 1. Is there a reliable test to determine if she is a carrier? 2. Do I need to be tested, too, to determine if she is a carrier? 3. If I need to be tested, do we have to be tested at the same lab? (I live near Washington, DC and she lives in Cambridge, MA.) View Answer |
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2007-05-20 |
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i m a sickle cell anemia patient and i want know proper solution of this disease. so sir tell me the proper solutions View Answer |
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2007-05-11 |
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During my pregnancy 4 years ago, a blood test revealed that I have Factor V Leiden (single mutation). Prior to getting this diagnosis, I had had an unrelated surgery and was on birth control pills for several years prior to becoming pregnant. Neither of these or my pregancy/delivery resulted in any clotting issues. However, now I am nearly 37 years old and would like to start taking birth control pills again. Given the F5L diagnosis and my age, is this option still viable? View Answer |
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2007-05-08 |
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Hi,I have a questions I hope you may be able to answer. I am hearing through my brothers hematologist that our family has a rare gene mutation called MTHFR. I have been reading up on this and I am seeing how our family medical history is falling into place with this. My mother died at a young age of 40 with colon cancer, my father died of heart disease at age 62, my brothers have a history of heart disease. I am 52 and I was told 10 years ago that I had a mild heart attack that was found through an EKG. I felt nothing. My sister, age 51, has rheumatoid arthritis, which she was diagnosed with at age 25 and she had difficult births, both children were delivered at week 26. She lost the first one and her second son was born and was diagnosed with Soto syndrome, which I am understanding is another genetic disorder. My question for you is are these two genes related in some manner? MTHFR and NSD1 genes? View Answer |
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2007-05-08 |
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I have been affected with acute urticaria my entire life. I have seen several allergy specialists who have conducted all of the routine tests, etc. with no definative answer as to what causes them or how to treat them. While pregnant 2 years ago I was hospitalized for severe preaclamsia. Turns out I have Methyltetrahydrafolatereductose (MTHFR - sorry, amateur spelling) I cant help but think that one may have something to do with the other since the pattern of outbreaks has not been consistant with foods or environmental factors. Could this be so??? Thank you in advance for any information you can offer. View Answer |
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2007-05-07 |
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I am in search of a sickle cell anemia researcher who could quote research that might validate my contention/assumption that it has been "slow-going" in mobilizing the African-American community to participate at the same rate per capita as the caucasian community within our four state area in the blood donation process. Our center has been conducting outreach activities using a locally-produced Sickle Cell Anemia education video for this purpose and our funder has been patient in waiting for us to assemble the statistics on numbers of persons reached. Is there a quote from a national figure in this area that I might be able to obtain or a published article that might confirm this?
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2007-05-01 |
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My sister (who is 28) was recently diagnosted with Factor V Leiden. It was at this time that I learned that my father as well was being treated for clotting disorders and had the disorder as well. My sister is convinced that I have the disorder as well. I however do not feel like this is an issue with me. I have actually for years had issues with anemia which to me seems to be the complete oppisite of the disorder my sister and father carry. Should I go ahead and get tested anyway? Is there really enough for me to be concerned about? The answer seems fairly simple but I am in the military and if I get tested through their medical system and come up positive it will mean the end of my career. Therefore, if there is truely something to be concerned about I'd rather pay to have it done by a private, outside physician. View Answer |
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2007-04-29 |
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I (Female: age 49) have been diagnosed as being Heterozygous for Factor V Leiden Thrombophilia. My mother (age 71) is Homozygous and has experienced multiple superficial thrombophlebitis episodes (which led to the diagnosis) as well as a Retinal Venous clot that has left her essentially blind in one eye. (She was on coumadin at the time of the retinal clot with an INR of 1.8). Both my sisters are also Heterozygous, one of which is like me, and has never had any symptoms, the other experienced bilateral pulmonary emboli subsequent to a gastric bypass surgery. I am now contemplating an elective gastric bypass surgery for myself. My question is: should I expect there to be any special precautions taken for me during/following the surgery if I should decide to have it. Thanks so much. View Answer |
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2007-04-25 |
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Dear Sir, I am about to get married to another sickle cell carrier-AS and AC. I want to know if it is reasonable to cut-off our age long courtship in order to prevent having unhealthy children or to go ahead if is possible to avoid giving birth sicklers based on present medical research.
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2007-04-24 |
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Can a disease, porphyia, for instance be contracted by recieving a blood transfusion or does it have to be inherited? View Answer |
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2007-04-23 |
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I was trying to find the percentage of women born with hemophilia, but since it's sex-linked recessive it's some very obscure number. Could you help me? View Answer |
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2007-04-22 |
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I am currently taking a post-AP genetics class. One of the requirements of the class is to research a genetic disorder; I chose sickle cell anemia.I was wondering if it would be at all possible if you could send me a case study that has been done on a sickle cell patient. I do not need very personal information, I just want a case study that you might have done so that I can use it in my research and report. View Answer |
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2007-04-20 |
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Hello, Is there any relationship between hemachromatosis and the development of leukemia? View Answer |
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2007-04-14 |
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what is the likely hood of a child getting the sickle cell trait when one parent has the sickle cell disease and one parent doesn't? View Answer |
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2007-04-13 |
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I have thalassemia minor and will be spending time at higher elevations this summer (max 13,770 ft). How significantly would altitude affect someone w/ thal minor? I can't seem to find anything published on this. The vast majority of medical texts state that thal minor is asymptomatic. However, wouldn't this result in symptoms under certain conditions? Since a person w/ thal minor has RBC's that are microcytic (or at least in my case), would they differ in:-their O2 carrying capacity per RBC? -their O2 association/dissociation (would O2 bind less tightly?)? Can you comment on the potential for increased oxidative stress in people w/ thal minor? View Answer |
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2007-04-11 |
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My sister was diagnosed with heterozygous factor V Leiden with associated resistance to activated protein C. She also has an elevated D-dimer and fibrinogen level. Should I be tested also and which tests should I have done? Could you explain this to me also?
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2007-04-11 |
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I have recently found that my father has hepitatis C and porphyria. He is in the stages of tests to determine what form he has. Is porphyria strictly inherited? Should my brother and I get a test? My grandparents are desceased so we have no knowledge if they had this. I am also 5 months pregnant and extremely concerned. Please let me know what ever you can.
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2007-04-04 |
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I just found out that I tested positive for sickle cell, I was going to medical to get cleared to go back to Iraq and that is when I found out. The first time I went I had blood test by my private Doc, my test came back that I had high red count and that my blood was to thick, is this part of it? View Answer |
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2007-03-29 |
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I have just been diagnosed with factor V leiden- previously have been diagnosed with : 92' protein C resistance, and in 2001 protein S resistance - the latest test indicates neither of those but now factor V leiden-- How accurate are the tests and does it matter which mutation I have - or are they all reasonably similar in terms of risks? View Answer |
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2007-03-27 |
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My mother-in-law, husband and stepdaughter all have "anemia". My husband and stepdaughter were both told that it was sideroblastic and my mother-in-laws doctor told her that hers was pernicious. My question is...Is pernicious and sideroblastic the same type of anemia?
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2007-03-25 |
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My 19 year old son has a single copy of H63D and a single copy of C282Y. His blood iron level is 216 and his ferratin level is 57. What are his chances of developing Hemochromatosis over his lifetime? I am a carrier of the H63D and my husband carries the C282Y. We have both been told we will most likely remain unaffected carriers. My son has been told to have his iron levels checked yearly to see if his organs have too much iron. Is this the proper advice? View Answer |
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2007-03-24 |
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I am 57 and have just been diagnosed with hemochromotosis. I am concerned about the length of time I have had it and whether any damage has occurred. What should I expect my doctor to do as a follow-up? Also, I have two sons and a granddaughter and grandson. Does this skip generations or should I have my children and grandchildren tested? They do plan to test my husband, but that all the info I've had. I enjoy a glass or two of red wine and dark chocolate on occasion, do not take iron supplements..........My ferritin level is around 470 currently.Any comments and suggestions are most welcome. View Answer |
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2007-03-22 |
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My doctor is checking me for Beta Thalassemia minor. I have two children who do not have any children yet, but may, in the future. Should they have their blood checked to see if they also carry this gene? What are the chances that they would have the gene? The doctor briefly stated that if my child and a person they marry have the same gene, their children would have a 50/50 change of having a bad case (Thalassemia Major??)What should I recommend for my children? View Answer |
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2007-03-09 |
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Factor V Leiden. What are the impacts on preganancy if you have this? I had a miscarriage and my dad's brother has it and found out it is hereditary. View Answer |
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2007-03-08 |
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If mother has Factor Leiden and history of miscarriage, who delivered a health baby, what should I do for the newborn?
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2007-03-03 |
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Is it safe for my 15-yr. old son who has Beta Thalassemia to take the drug Accutane for his acne? His doctor is hesitant to start him on it and needs to research it. I would like to know why or why not, and any further resources I could go to for information about this. His acne is severe, and antibiotics have not helped, so we are anxious to try this treatment. View Answer |
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2007-03-01 |
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My mother and I was recently tested for blood clotting (my moms sister has this). Our dr. tested Protein S (which came back 61 and 93), Protein C (came back 108 and124), Anti-Thrombin III (came back 108 and 107). However the Factor V Leiden Mutation, came back that we have the factor V Leiden (R506Q) mutation on one allele, (heterozygous carrier). What does this mean and what should we do? I tried looking up info on line but it is very confusing. I take birth controll pills and am having ovarian cysts removed in March. View Answer |
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2007-02-26 |
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I am homozygous to Factor 5 Leiden, is there really only 5-7% of Caucastion Americans that have this genetic disorder? I do not see how this is possible if my mother is one of 8 and my father 1 of 4, I have 4 siblings, 2 children of my own (that have 1 copy), 1 sibling I know for sure and I also have 20-25 cousins that atleast 80% have this. If they will not test teens before birth control how can they be sure that all these individuals dying of strokes/heart disease/blood clots/PE do not have Factor 5. Statistics say 200,000 individuals a year die of blot clots. How many of those are relative to Factor 5. I was thinking of starting a foundation, I almost left 2 children along with a husband and all of my family due to small blood test that could have prevented all of the pain I went through and continue to go through. View Answer |
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2007-02-24 |
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Sir, I live in Maharashtra in INDIA. We have trait of sickle cell anemia in our family from my mothers side. She had lost her brothers due to this disease. But she is totally normal and and dont show any possessions of the trait. I am afraid of getting this disease in my future generations. There is no one affected with this genetic disease from my fathers side. Me and my younger sisters are too normal. Can this affect my future genetations? What precautions shoud i take to avoid this trait to reappear in my family. Do eating Beef has any relationship with inheritance of this disease??? View Answer |
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2007-02-21 |
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I am a retired British Pathologist, my brother in law has been found to have Heterozigtot Factor V Leyden mutation, I am interested in the risk of my sons, 25 and 23 beong carriers of this mutation. Their father does not have the mutation, neither do I.
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2007-02-14 |
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My sister has two children who when born seemed normal but were soon diagnosed with severe learning disabilities and some muscular problems. They have been tested but not diagnosed. My mother has Beta Thalassemia minor is it possible that this could have been passed on to my sister and affected her children?
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2007-02-14 |
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my sister has just been diagnosed with factor 2 lieden and says i will have to go for a blood test to see if i have the condition i have two children and am three weeks away from having my third child what are the risks with this disorder in pregnacy and do i have to get tested straight away whenever ive had blood tests done to check my blood count i seem to have a lot more white cells is this linked View Answer |
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2007-02-09 |
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My dad just found out that he has hemochromatosis and that he inherited one bad gene from his mom and one from his dad. I was just wondering if you could tell me what the chances would be for me or my brother to inherit this gene. I'm not sure if I am even asking the right question. Thank you for you help.
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2007-01-30 |
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Hi. I am have the Hemoglobin C Trait and I passed this trait on to my daughter. Her father does not have the trait. But I was wondering, is there really a 50% chance that my next child could manifest this disease? Also, what are the latest genetic testing done for sickle cell disease? View Answer |
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2007-01-25 |
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Dear Sirs, My nine year old son was diagnoised with Sickle Cell SS at age two. He has never had a pain crisis or any blood transfusions. He is the body weight and size of a six year old. His blood count averages 7.2 - 8.0. A result received from a MRI in 2005 shows that he probably had a silent stroke. I have not noted any changes in his speech, way of walking or his perforamce in school. He is still a A student. My questions is, although he is not experiencing any of the usual obvious complications of the disease, in order to prevent any further organ damage due to "sickling" should I consider putting him on the drug Hydroxyurea? All the research papers I have read, talk about the drug either for babies, or adults who expereience a lot of pain. Would this drug affect his growth in any negative way? View Answer |
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2007-01-23 |
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5 years ago I was diagnosed with Factor V Leiden after developing a DVT and also a PE. I am interested in finding out about the long term effects. Currently, I wear a supression stocking (30-40) - but would like to know what I can expect later. My leg seems to be getting "tired" more easily now. View Answer |
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2007-01-15 |
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My college age son was diagnosed with mild Factor 11. Should he wear a bracelet that alerts medics of this condition? Should he be tested further to see what is causing this? View Answer |
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2007-01-15 |
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Can you please explain the possible relation of Malaria and Sickle Cell Disease, and exactly how Sickle Cell can improve survival rates of those with Malaria. Also, I am interseted in how the tie between the two diseases was discovered, and exactly how much evidence there is supporting the theory. View Answer |
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2007-01-09 |
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HI, i would like to know where the gene for hemophilia is located in the chromosome pair. also what evidence do i have that an individual must have two alleles for hemophilia to have the disease? View Answer |
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2007-01-09 |
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I just received the blood test results that indicate I have Factor V Leiden Mutation (heterozygote). My GP referred me to an oncologist for a treatment plan. Is this the correct type of doctor? It doesn't seem right to me. If not, could you tell me what kind of doctor I should follow up with?
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2007-01-02 |
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My 15 yr old daughter is being tested for porphyria. I myself have been diagnosed with Multiple Sclerosis as were my father and his mother. The more I read about the different types of porphyria, the more I wonder about our diagnoses. The adding to my questions is the family history of liver problems. My father had part of his liver removed at the age of 25, my brother is consistently being told he has some form of hepatitis with follow up testing always proving otherwise, and I myself have adnormaly high liver levels. What are the chances that 3 generations have been misdiagnosed with Multiple Sclerosis, and how would we begin looking into the genetic possibilities of porphyria? View Answer |
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2006-12-28 |
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Hello, Several of my family members and myself have been diagnosed with Protein S Defiency.My youngest daughter has been diagnosed with Protein C deficiency.My Middle daughter has been diagnosed with Russel viper Venom..possible Lupus anticoagulant..(they are still testing) . My question is, Why do we differ? Why wouldn't we have the same gene mutation? My youngest daughter and myself are on medication. My middle daughter is not as of yet. My oldest daughter is fine. Thank-you for your time. View Answer |
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2006-12-27 |
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I was dignosed with hep-c. liver biopsy, found heredity hemochromatosis, and cirrhosis, never drug user, no tranfussions. no one i had sex with or lived with have hep-c. could the hemochromatosis have cause me to get hep-c. can not figure out how i got the hep-c View Answer |
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2006-12-22 |
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I have been unable to find much info. on the research into a cure for hemophilia, I am unaware if there even is one, as many sites do not make it clear as to whether they are talking about a cure or just treatment (temporarily replacing the factors and such) for people with this condition. Please make it clear as to whether there is a cure for this and if not is there any research going on at the moment into finding one and if so how ahead is this research? View Answer |
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2006-12-13 |
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What is hemoglobin barts? View Answer |
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2006-12-09 |
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Is it genetically possible I could have Porphyria? I have a chronic health condition that has been diagnosed as fibromyalgia, although during 'flare ups' I have colour change in my urine. I have heard of Porphyria and that it is a rare condition so I am hesitant to ask my doctor about this condition. My Maternal Great Grandfather was the illegitimate son of English Royality (our geneology confirms this) and my fathers family were baronets in Croatia (former Yugoslavia) that intermarried with Teutonic Knights stationed in Croatia. My parents where migrants to Australia and I was born here. Thank you for your time. View Answer |
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2006-12-05 |
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If my brother has Hemophilia but there are no other people who showed symptoms or were diagnosed on either side of the family - could his condition be from a random mutated chromosome? If his condition is from a mutated chromosome is there any chance that I (his sister) am a carrier? With no one in that family being diagnosed or having symtoms could Hemophilia be from a passed down X?
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2006-11-30 |
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My son has sickle cell disease. I was told that he needs a partial transfusion. What is that? View Answer |
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2006-11-29 |
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My husband and I are planning to start a family this year. I recently found out that his paternal grandfather died of Porphyria. I understand that there is a possibility of this condition being passed on genetically. My husband's father, aunt and sister have all tested negative for Porphyria, however my husband has not been tested and refuses to discuss the issue with me. My husband is now 32 has shown no symptons of Porphyria.I do not know which type of Porphyria his grandfather had. I am extremely worried and would like to know what the chances are of this disease being passed onto our children. View Answer |
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2006-11-27 |
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Hello, I'm a 11th grade Biology Student at Mulberry Senior High School, and each student is doing projects on different genetic disorders. I chose to learn about Hemophilia. I've gathered much information, yet I haven't covered all the topics in my Rubics, I am trying to find any information about how far we have come with Hemophilia, and how it was discovered, and why we cannot just splice a gene from the parent who hasn't inherited the x-linked disorder? If you could provide me with any material or thoughts that would aid in my project I would be very grateful. View Answer |
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2006-11-21 |
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what are the symptoms of porphyria? View Answer |
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2006-11-20 |
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In 1999, I was found to had a blood clot blockage behind my right knee. Before the surgeon did surgery on my deep veins in both legs he sent my blood off to have a test done which showed positive for the Protein C Deficiency. I was put on Coumadin & have been on it since & have been told I would have to take it for the rest of my life. In gathering info for an upcoming doctor appt. I wanted to take the test results of this disorder sent to him. I was told that a test result done at the same time for Factor 5 was negative. This is where I'm confused. Are these 2 separate disorders or the same? Can I test positive for one & negative for the other? I've read all kinds of info but nothing I've found addresses this question. Appreciate any help you can give. Thanks. View Answer |
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2006-11-13 |
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Good day, For your reference, my two-year nephew has been diagnostic with EPP by a US doctor. Unfortunately, medical resources are limited here in the Caribbean.As you might understand, living in the Caribbean does not help a child with EPP. Thus, we are kind of concern with the child going outdoor or not. My question is, can we let him out with proper sun-protection? we are even afraid of the child going to school due to the sunlight exposure.Please inform if there is any other measure we should take to avoid any physical deterioration on the child.Your prompt reply would be highly appreciated. View Answer |
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2006-11-06 |
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I'm doing some research on Beta Thalassimia Minor and anemia, which is something I have had for 23 years now. I was wondering two things. First, can having the minor form of this cause problems in everyday life? Second, I'll be heading to surgery and my doctor talked about blood loss and that she knows about my Beta-Thal. Why would she mention that? Is there a concern of blood loss with a person with Beta-Thal?
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2006-11-02 |
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I am a 35 year old female with beta thallysemia minor. I am wondering what the precautions are relating to having children. View Answer |
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2006-10-25 |
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My 6-year-old son has thalassemia B minor. He is very small and light for his age and also is quite hyperactive. Is hyperactivity linked to this disorder in any way? I heard that he should avoid altitude. What happens if a child with this condition is taken to the mountains? Is there anything I could do that would help strengthen his blood? View Answer |
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2006-10-22 |
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I have TTP. I was diagnosed in 12/01. I relapsed in 07/06 with a mild stroke. I am 42 years old and married. I also have chronic glomerulonephitis. I was diagnosed with that in 1983. Can you tell me what my prognosis is with these two problems? The doctors have told me I will relapse again and probably with more complications and/or could just die. Everyone in my family has been tested and no one seems to have it. Also, why after a period of time it gets downgraded to luekocytosis. Does it or does it not mean I still have TTP? View Answer |
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2006-10-20 |
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I would like to know what the physical limitations for a person with sickle cell are. I am specifically speaking about a 15 year old male who wants to be involved in sports like basketball, track, and also getting involved in his school's ROTC club. Can he participate in these things and if he can what are his limitations. For the most part this young man in healthy (despite having sickle cell) and he does not know what he can do when it comes to physical activities. View Answer |
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2006-10-20 |
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I HAVE HAD A RASH NOW FOR5 MONTHS,WITH SEVERE ITCHING AND SUNLIGHT MAKES IT ITCH SEVERELY.IVE SEEN A DERMATOLOGIST AND HE CANT SAY WHATS TRIGGERING IT.ALL THEYVE SAID IS MY ALLERGEN LEVELS IN MY BLOOD HAVE DOUBLED.I JUST HAD MY SECOND CHILD WHO IS 6 MONTHS OLD.THE ITCHING IS MAINLY ON MY ARMS AND LEGS.ARMS MORE SO.IM NOTICING OVER THE LAST 3 WEEKS THAT THE PIGMENT OF MY SKIN IS TURNING WHITE IN LITTLE WHITE DOTS FIRST ,BUT I AM NOW NOTICING BESIDES THE DOTS THAT ARE APPEARING IM ASSUMING FROM MY SCRATCHING,I HAVE LIGHT BIGGER PATCHES SHOWING UP,I AM CONCERNED BECAUSE MY AUNT ON MY FATHERS SIDE HAS PORPHYRIA,IM NOT SURE WHICH TYPE SHE WAS DIAGNOSED WITH,I WOULD HAVE TO ASK HER.SHE HAS HUGE WHITE PATCHES ALL OVER HER FACE AS WELL AS HER ARMS IM NOT SURE WHERE ELSE.IS THERE A POSSIBILITY THAT I COULD HAVE SOMEHOW INHERITED THIS DISORDER.PLEASE CONTACT ME THROUGH E-MAIL AND LET ME KNOW. View Answer |
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2006-10-18 |
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I am a female diagnosed with Factor V Leiden. I am aware that there is a risk for blood clots during pregnancy. When I am ready to have a baby, what precautions will I need to take prior to, during and after pregnancy to prevent clots or other complications? Do most women go on blood thinners during their pregnancy? Thanks. View Answer |
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2006-10-18 |
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what test can I have my doctor run on me to detect if I have sickle cell? I had a sickle test ran and it can back positive what other test can be ran to confrim it. My father has the trait as well as g6pd which I also tested positive for. View Answer |
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2006-10-17 |
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My wife and i are about relocating to the UK from Ghana. Our problem is that we are both AS in genotype. and we are afraid not to have babies with SS, which is sickle cell.
i don't know if the technology to correct that is in the UK or any part of the world. i mean the technology that will make us not to bear/have children with SS. the technology is not hear in Ghana. Please help because we are really worried. And i don't want to loose my marriage. View Answer |
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2006-10-16 |
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Hello,I am a 25 year old female with sicke cell trait (45 %). About 9 months ago I began to have Jaundice. My blood test shows elevated total bilirubine and conjugated bilirubine. Is the jaundice and the bilirubine caused by my sicke cell trait?
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2006-10-12 |
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my brother was recently diagonsed with HH and I had the DNA test and also Ferritin, and the other blood tests they do to find out how my levels were. The DNA test came back negative and also my blood work was normal. I also have symptoms of the disease such as fingers aching, body aches and was diagnosed with fibromyalgia 10 years ago. Is it possible I could still have the disease even though my test came back negative and my blood and iron levels are fine.? Thank you. View Answer |
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2006-10-12 |
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I have Factor V Leiden. Both of my parents have been tested for this disorder and neither of them have it. I've been tested twice and I definetely have it. No one else in my family have had any strokes or blood clots. How can this be if it is an inherited disorder? My hemotologist said that I must have a mutated gene. View Answer |
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2006-10-11 |
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My brother has Factor V Leiden. He is 68 and I am 63. Is it advisable that I get testing? I am a little overweight, but otherwise in good physical condition. View Answer |
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2006-10-10 |
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I had a heart attack. I am 35. I have factor v, single. I also have vasculitis, lupus, and rhumatoid arthritis. Could the factor v be what caused my heart attack? When my cardio diagnosed me with vasculitis, he didn't know I had factor v. Also, I have 2 teenage daughters looking to get on birth control. Should they be tested before they get on the pill since the pill causes clots? Thirdly, is plavix which I am on an ok treatment? What is the general treatment? I did lovenox injections before I had surgery. Any information would be appreciated, since the condition is rare and I seem to have a gazillion Dr.'s. Can my kids inherit the condition? We have jewish blood, and all the females have either one of my condition or collitus, IBS, juvenille arthritis etc. Thanks SOOO much for taking the time to read this! I am just scared for myself and my kids. View Answer |
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2006-10-08 |
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I have recently been diagnosed with Factor Five. My doctors found this out when I was pregnant and had a superfical blood clot in my leg. I had a miscarriage and am also morbidly obese. I am wondering if I loose alot of weight, will it help to decrease the chance of a blood clot again?
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2006-10-07 |
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I just wanted to know if SiclkleCell Anemia with the SS trait could cause blindness in children or other SickleCell Anemia patients as well? I was also wondering if I could get some more information on the disease for my cousin about the disease. Her son has SickleCell Anemia with the SS trait and she wanted some updated information about it to see if there was anything that she could do further to help him, and if there was anything else that she needed to know that she didn't already know. I would like to thank you for your help in assisting us with any information that you could to help us. with. View Answer |
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2006-10-06 |
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My father, who now has liver cancer, was diagnosed as having hemochromatosis about a year ago. His children (of which I am one) were told they may also have this disorder. I relayed this to my doctor during my annual physical, and she said she would check it out. The only thing that happened is I received a sheet from the lab stating my iron levels were "normal". Does that mean I do not have hemochromatosis? If not, what should I do to find out for sure? Thanks. View Answer |
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2006-10-03 |
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Most male members of my family have thalassemia minor. I understand the implications of this condition in my day to day life, however, I don't quite know if it makes it worse for me as a cigarette smoker. Granted that smoking is bad either way, and I've just enrolled in a program that helps me quit; but I wanted to know how much additional damage, if any, I've done to my body.But more importantly, I want to be able to have some information to turn the other smokers in my family to the "clean side". View Answer |
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2006-10-02 |
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I recently insisted that my doctor test me for hemo-chromatosis. At first he refused, then he relented. According to my lab report, the gene test for HH mutations revealed a single copy of H63D. The report stated I was most likely an unaffected carrier, but admitted the panel did not identify rare HH mutations, and a small number of people who have a single copy of H63D are actually affected. My doctor stated in a cover letter to the lab report that, "Carriers are unaffected by a single mutation. You will not have hemochromatosis now or in the future." I did not accept his statement and asked him to do the iron blood tests. He flatly refused. I feel my request was not unreasonable, as I have been suffering from severe fatigue, body aches and pains, unexplained fevers, frequent infections, and environmental illnesses since my early 30's. I am now almost 52. During my Dec. 2005 physical, my lab test revealed I had sustained liver damage (elevated ALT). I am not much of a drinker, so I don't know what caused this. What do you think I should do? Obviously, I am going to find another internist that I can trust. What would be your recommendation for getting the iron blood test? There's also a possibility that I self-overloaded myself on iron since I took prenatal vitamins with iron from 1991 and just recently stopped taking them. Your help is greatly appreciated. View Answer |
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2006-09-30 |
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My 20 year old son was daigonoised with Pseudotumor cerebri due to a saggital sinus thrombosis. After testing he was found to have Factor 2. Does he need more testing? He has 3 siblings, should they be tested? View Answer |
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2006-09-25 |
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Hello, When my daughter was 3 (she is 5), she underwent a T&A, and hemmorhaged x3 and had emergency 2nd surgery with 3 units pediactric blood given. In finding out why this happened, they found she has Factor V Leiden. How important is it that rest of family get tested? Can this truly be cause for 3 hemmorhages? View Answer |
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2006-09-18 |
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How common is for a caucasion to have Beta Thlessemia Minor. My sister and her to children have been diagnosed with this. View Answer |
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2006-09-18 |
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I want to find a place where there is gene therapy for PTC or (Porphyria Cutanea Tarda) Can you help? My skin on my hands face neck and forearms is just being ravaged by this condition. No one in my family has this affliction just me. I have been through the phlebotomies and my iron and feratin is low however this has not healed my skin. This has haunted me for over a year now. Can you tell my where to find genetics to cure this once and for all? I will be the test rat no problem, Please help me....
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2006-09-14 |
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I have Factor V Leiden, heterozygous. My sister was told by a friend, who had no idea who I was or that I have Factor V, that the rash on her arm could be caused by Factor V. Is this true? Could it also be due to the fact that she just started taking a multi-vitamin? Should she be tested for this particular disorder? View Answer |
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2006-09-13 |
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My daughter was recently diagnosed with the R506Q mutation for the factor V. She is apc resistance (protein C). Thus, the DNA test states she has one copy of the mutation (Factor V leiden). So began the testing for others. My other daughter is negative, my mother is negative, and my test was also negative. My mother's sister has one daughter who has tested positive, and it turn's out her daughter is positive also. Anyway, the information I found said that it comes from a parent. So I am somewhat confused about how it is inherited. Is the mutation a direct link from parent to child? Can it skip one or two generations? Does it just show up randomly in some family members and not others? Basically, only 3 family members so far. Also, is it possible for people to be a carrier and not have the mutation themselves? Any (simple) information would be appreciated. Thank you kindly. View Answer |
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2006-08-30 |
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A friend /co-worker of mine has Thallassemia (beta, I believe). She is of Greek decent and came to this country when she was about 2. She receives transfusions regularly, and if I'm not mistaken, has had her spleen removed. My question may sound odd: Do Thallasemia patients have " a look" ??? The reason I ask is that I never questioned her very short stature because both her parents are very short - I'd say her Dad is maybe 5'5" -- but I recently attended her wedding and saw a number of women there who looked like her - I thought they were related to her and thought the resemblance was astounding - same coloring, same eyes, same facial features, but I was told they were not relatives, that they were her "friends from the hospital" (where she gets her tranfusions). Then it was pointed out to me that the 5'6 blonde at the table next to us also has the disease, so I was a bit confused. Can you shed any light on this for me?? Thank you. View Answer |
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2006-08-21 |
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My father was recently diagnosed as having both genetic markers for hemochromatosis (one from his mom and one from his dad). We are awaiting liver biopsy results to determine the level of iron storage damage as he also has cirrhosis and diabetes. My daughter has Juvenile Rheumatoid Arthritis. I have been tested for RA several times with a negative test each time but have been diagnosed with fibromyalgia. My question is whether or not all of these health situations could exist without any connection or is it likely that I have hemochromatosis or am a carrier and have passed it on to my daughter? View Answer |
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2006-08-13 |
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I have been tested for factor V leiden. The lab report says that the activated protein C (PCR) is abnormal, heterozygous mutation for factor V Leiden is present. It also says that I was evaluated for activated protein C resistance and that a value was obtained consistent with activated protein C resistance. I have a heart condition, and am on the following drugs: plavix (75 mg); lipitor, 40 mg; diltiazem XR, 120; Coreg, 6.25(3 per day), HCTZ, 25; Zetia, 10; 1 baby aspirin daily. I am a white male, 76 years old. Should any of these medications be reconsidered? Thank you. View Answer |
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2006-08-09 |
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My daughter was diagnosed with acute intermittent porphyria ten years ago. I am a cancer survivor who suffered neuropathy during my treatment in 2002. During the past six months I have suffered two episodes of neuropathy. The episodes have lasted 24-48 hours and then disappeared. Could this be hereditary neuropathy? View Answer |
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2006-08-04 |
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My husband has recently learned that he has the gene for hemochromatosis. Our youngest child's pediatrican ordered a genetic test and found that he is a carrier. Our 19 and 21 year old sons go to a family doctor who ordered iron studies which came back normal. Should the 19 and 21 year olds have genetic testing too? Thank you. View Answer |
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2006-08-02 |
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My daughter was diagnosed with Factor V lieden 2 years ago after having her baby die while she was 6 months pregnant and then 2 days later she had a very large stroke. Whe found that the FVL was the cause of all of this. She was never tested for this during her pregnancy since there was no family history. She is a heterozygote. I guess my question is why aren't all pregnant women tested for this during pregnancy and she also has a high frequency hearing loss that we aren't sure why it happened at birth. Could the FVL be the cause of this? View Answer |
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2006-07-30 |
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I have factor 5 leiden-thrombophilia one copy and also MTHFR-homozygous-2 copies my 3 year old was found to have MTHFR and also factor 8- too much clotting. im not really sure what factor 8 is. I dont understand any of this or what i am supposed to do now. View Answer |
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2006-07-27 |
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My mother was diagnosed with hereditary coproporphyria. I have some of the same problems that she has including a seizure disorder, migranes, tachycardia, high blood pressure (stage 2), high cholesterol levels (above350), high triglyceride levels (above 550), and several other conditions. I am 38 years old. Should I be tested to see if I also have this disorder. View Answer |
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2006-07-26 |
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I have been diagnosed with Hemocromotosis. I'm 39. I also was diagnosed with Rheumatoid Arthritis & Fybromyalgia when I was 35 (It came on sudden & rapidly). I noticed that many of the Hemocromotosis symptoms are simular to the RA symptoms. My questions are..1. When you have RA does your body over produce white blood cells? 2. When you have Hemocromotosis does your body over produce red blood cells? 3. If your answer was yes to both, why is my body over producing both? 4. The calfs of my legs are FULL of discoloration spots, which to me looks like I have bruises everywhere. My hemotoligist has been having me do blood letting every 4 months (I have only done twice so far). Will these every go away? 5. Can changing my diet help? 6. I notice I have been bruising very easy recently, is this also a part of the Hemocromotosis? Because I thought that you bruise easy when you have low iron. View Answer |
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2006-07-24 |
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Information about porphyria mentions drugs can cause symptoms. What are they? View Answer |
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2006-07-23 |
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My mother has Thalassemia TRAIT. She passed it down to my sister (carrier only), who passed it on to her son (carrier). Since my Mom and sister carry it, I know that I might also (as well as my children), but two doctors have said "your blood work (CBC) shows you don't have Thalassemia". I've tried to explain to them that I know I dont HAVE it, but that I may be a carrier, and that's what I need to know. Should I make an appointment with a genetics specialist, or is what my doctor says true - that he'd be able to tell just by my CBC?? My daughter is now dating a guy who has the Thalassemia TRAIT, so if they married and had children, it could be really bad! I thought of having her tested but then I have two other children and I'd need to test them also. It would be easier to find out if I even carry it first, before having all 3 of them tested. So, should I be assured I don't carry it because my doctor said I don't? I'm not sure he understands the carrier part....Thanks so much. Karen View Answer |
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2006-07-12 |
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After blood monitoring from my Neurologist who prescribes Tegretol and Depakote (both need blood levels monitored) he was concerned how/why my hemoglobin was low yet my Iron was high. After finding a Hepatologist & Gastro and having a slew of blood, genetic tests, CAT scan & Liver Biopsy this is where I stand: 1. Beta Thalassemia trait (throughout family on mother's side); 2. mild anemia; 3. positive for presence of H63D mutation in the HFE gene, negative for C282Y mutation; 4. Hemachromotosis / HHC Chromosome 6; 5. too much Iron in my liver; 6. being transitioned to a liver-safe epilepsy medication Keppra versus the Depakote. Luckily most of my blood results are explained and accounted for. But I dont know where to begin to understand and face the future and long term implications of all this ? And what risks if any are there for having a family ?? View Answer |
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2006-07-07 |
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I hace the factor v leiden gene inherited from one of my parents. I am courently on coumadin due to dvt in my leg and a puimonary embolism that occurred in march.. I am 59 years old. will I have to be on coumadin the rest of my life. View Answer |
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2006-07-01 |
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if a 26yo wf who was unaware of her factor V Lieden gene, on birth control, vicadin, celebrex, is 3 wks. post surgery for gallbladder, and lives with a smoker, has a medullary infarct what is. the percentage that she has compared to a normal individual for this infarct to occur. thank you for your response. View Answer |
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2006-06-30 |
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I found out that I have MthFr with Heterozygote after 1 successful delivery and 9 unsuccessful pregnancies, my 2nd delivery was very closely monitored but the specialist told me very little of this condition. I found out that both of my children have it too. I read somewhere that this could eventually cause Lupus so I have been reasearching this and found out that I have many of the symptoms as does one of my kids. What else can you tell me about this condition? View Answer |
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2006-06-24 |
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Hello, I suspect I have VP (or PPOX deficiency). My maternal uncle already has it and I am exhibiting symptoms for it, but I was curious how this mutation came about. Is this the result of past inbreeding in humans? View Answer |
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2006-06-23 |
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I understand that methemoglobinemia is an autosomal dominant condition. My girlfriend has the disorder (hemoglobin M). I do not have it. We were wondering what the chances were of having a child with the disorder, if there was any way to have it corrected, or if she could be tested to determine if she is heterozygous or homozygous for the condition. View Answer |
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2006-06-22 |
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Hello, I am a 31yr. old female With sickle cell anemia (SS). I was wondering if it is to late for the bone marrow transplant. I know the persentige of the transplant and the age factor, but what I want to know is do you think it will work. Also do you know of anything that would? View Answer |
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2006-06-15 |
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im 3 months pregnant and i just came to know that im a beta thalassemia patient.....we dont know abt my husband that he have any such problem or not...hes going to have his tests soon...i have hypothyroid problem as well....i wanna ask that whats my probability of living...and what is the probability/chance of my child being affected with thalassemia? View Answer |
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2006-06-15 |
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I have recently discovered that Factor V Leiden runs in my family. I have 3 paternal aunts/uncles and 1 cousin diagnosed with this condition within the last 6 months. Both of my uncles have undergone surgery and are now on chronic anti-coagulation for this condition. My father suffered a heart attack at the age of 42, he has never been tested for this disorder. I am not sure whether this could be related to Factor V. I am wondering if this should concern me, I am on birth control and I know that this can increase my risk of developing clots. Should I request to be tested from my primary MD? View Answer |
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2006-06-12 |
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I have been confirmed to have Factor V Leiden's disorder (I tested for this because my sister had a blood clot which traveled to her lung). My menstrual cycles have been more often and heavier and my doctor put me on Norethinddrone 5 mg tablets once a day. I have taken these for 3 days and had severe headaches for the past two days. I was told that progesterone wasn't a problem with Factor V and this was prescribed to get my menstrual cycles back on track and improve my uterine lining which was thickening. I thought any hormones were bad with Factor V - is this true of the Norethindrone?? View Answer |
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2006-06-06 |
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I am looking for some reassurance really. I was diagnosed with Porphyria Variegate Intermittent when I was about 23 and haven?t really suffered with it other than drug allergies and the occasional stomach problem. However, I am now 40 and have been trying for a baby for 3 years since I got married. My problem is I have had 3 early miscarriages (before 10 weeks) and had to terminate a fourth after 21 weeks due to Spina Bifida. I have recently been diagnosed with Protein S Deficiency and I have been told to take 75mg Aspirin and 5mg Folic Acid every day and when I fall pregnant next time I am supposed to inject my self with Clexane every day up to 36 weeks. I am worried about this and whether it will cause a problem with my Porphyria. Could you please put my mind at rest or let me know what to do? View Answer |
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2006-06-04 |
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I have Factor V and I am wondering if there are any safe hormonal forms of birth control? View Answer |
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2006-05-31 |
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bout a year and a half ago, my husband got sick with what we thought was the stomach flu or food poisoning. He was throwing up and had diahrea. I ended up taking him to the hospital to have him given a shot to make the vomitting stop and to get him on an IV of fluids. Though the vomiting stopped, he still has regular loose stools 1-2 times each day. We spent many months going to doctors . . . they did blood tests, took stool samples, did a colonoscopy and an ecdoscopy and found nothing to be wrong with him except elevated ALT . . . I think it was in the 70's. They were not sure why--no drinking, no drugs and they did a hepetitus test, normal. He got frustrated and stopped going to the doctor because they can't find anything wrong. Now I am wondering if he might have hemochromatosis. In reading the symptoms, he fits many of them. He has severe stomach pain, an irregular heartbeat , , , that gets more irratic when he has what he calls "episodes" (severe stomach pains and diahrea). He has not lost weight, but rather seems to gain weight, even though he often can't seem to keep anything in his body. And, when this all started, when he was sick that first time, his burps smelled like feces, as if his digestive track was going backwards. (But this hasn't happened since . . . it jsut seems very abnormal to me.) The doctors apparently did a test for hemochromatosis on his request last year and they said it was negative, but I have read that certain tests can come back negative because maybe the iron hasn't built up enough yet. They never could explain his elevated ALT though. So, my question is: Is it possible that he does have hemochromatosis and, if so, what tests shoudl we request from the doctors to determine this? He just wants to feel better, and I want him to feel better. View Answer |
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2006-05-20 |
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My husbands sister has just been diagnosed with Factor V Leiden Thrombophilia mutation. I am wondering if our daughter who is 13 months should be tested? or if this genetic disorder would only affect my daughter if my husband is tested positive for the disorder?
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2006-05-19 |
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If I am a carrier for beta thalassemia [Ihave the minor form of the disease], and my husband is a carrier for alpha thalassemia [also minor], can our child still inherit a major form of thalassemia?
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2006-05-18 |
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Should a person who is a carrier of beta thalassemia take iron supplements? My doctor recently diagnosed me with mild anemia and directed me to take multivitamins with iron. Is that a good idea? View Answer |
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2006-05-16 |
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I have been diagnosed with Factor V Leiden disorder....as have several other members of my family. Several of us have developed blood clots and survived them. There is also a high incidence of heart attacks in my family. Have there been any studies which relate increased risk for heart attack if you have this bleeding disorder? View Answer |
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2006-05-15 |
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I just had a stillbirth during the 41st week of pregnancy.(My first pregnancy) I have a SLIGHT positive for MTHFR. Does that mean that I can't get pregnant again and have a normal birth?
Will I need medication during my next pregnancy?
I have to see a specialist in 2 months (That's his soonest appointment) should I wait before trying to conceive?
Thank you!!! View Answer |
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2006-05-10 |
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I was tested for my iron levels in the past and my doctor considered hemachromatosis. They dismissed this possibility. It has been about two years and I am experiencing persistent hip pain and was wondering if I should look into this again. Thank You View Answer |
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2006-05-09 |
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My grandmother was a carrier, then my mother and one of my aunts became carriers. My mother and aunt each had one hemophiliac boy. I still don't know if I am a carrier or not, but my question is: If I am not a carrier, and my husband is not a hemophiliac, is there any way for my children to be affected by hemophilia? This is probably a stupid question but I heard somewhere that hemophilia can skip generations. Also, can hemophilia be completely "killed off" in a family if none of the hemophiliacs or carriers reproduce? Thanks View Answer |
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2006-05-09 |
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My father passed away from sideroblastic anemia 17 years ago. until recently, i always thought this condition was not genetic. my recent blood work showed a high iron level and i am now in the process of determining if i have hemachromatosis as well as making sure to rule out any chance of having sideroblastic anemia. I am a 35 year old female. I would like to know what the chances are that this could have been passed from father to daughter. My guess is that it's very slim, but i would like to know more. View Answer |
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2006-05-05 |
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I have been Dx with Porphyria, I have had many hospitalizations and many lab testing that all confirm porphyria(HCP). A few weeks ago my Dr. tried testing me while I was asymptomatic and the results came back negitive and now says the I no longer have porphyria. Through all of my studing the family of Porphyrias, one cannot get difinitive labratory tests unless tested at or near the acute manifestation of porphyria. My Dr. is passing me back to a G.I. Dr. who found no GI problems. I have had an exploratory laperotomy and many biopsies through the GI clinic with no abnomalities. Is my current Hemotologist correct for doing the test while no symptoms were present and for refering me back to the GI clinic? Thank you. View Answer |
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2006-05-03 |
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What are the phenotypes of Hemophilia? View Answer |
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2006-04-30 |
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My son will be 16 this October. He was diagnosed with HSP in 2002 after 4 or more years of symptoms. His bouts are getting more frequent but he doesn't get the rash anymore. Another possible diagnosis has been intermittent porphyria. He only gets sick after he has been sick, gets bug bites, gets too cold or change of weather. I am also wondering if being nervous about something causes it because he seems to get sick before big plans, like he has had to miss his first military ball, several Scout camp outs, almost missed prom, but suffered through it for about 2 hours just to go. But it always follows an illness or something that makes his immune system work. It is interfering with him being a teenager. When he has bouts or episodes they occur about a week after he is sick, then he will run a fever around 104 and throw up severely for days, usually 4 or 5. I have to keep pheragran suppositories at home to make it easier on him, nothing else works. It doesn't stop the vomiting, but he will sleep in between. All that I have read about HSP says it is a once or twice thing then it is over, he has had this problem for about 10 years. One of my biggest fears is the kidney damage that seems to be long term with this. I do get his urine checked every 6 months and so far so good, same with all the blood work he has done, but I have read that damage may not show up for years. I am very careful what I let him do because I don't want to risk him getting sick and causing long term damage. This has made me over-protective of him. Does this still sound like HSP or something else? Thank you for your time. View Answer |
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2006-04-27 |
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Hi, My brother is homozygous for the C282Y mutation in the HFE gene (HH/YY), my mother and i are both carriers of the C282Y mutation (HH/CY) and my husband is a carrier of the H63D mutation (HD/CC). We have been advised that our daughters can have one of 4 genotypes HH/CC(wild type), HD/CC, HH/CY or HD/CY. I understand that they can inherit either one mutated gene from either of us, making them carriers or one mutated gene from both of us but I am unable to work out if one of the genotypes noted above is a normal HFE gene and therefore could inherit both normal genes from us.Please could someone explain the letter codes(genotypes) and if possible the % risk of inheritance and degree of potential risk of developing iron overload symptoms. Also what are the 'letter codes' for the normal HFE gene? Does anyone have an idea if there is a link with autism & iron overload as both our daughters are on the autistic spectrum? I would greatly appreciate your help/explanations. Thank you. View Answer |
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2006-04-25 |
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I just wonder how many different mutations are known to give acute intermittent porphyria? And what are the frequens of acute intermittent porphyria? View Answer |
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2006-04-21 |
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Hello, when I was 15 years old I was diagnosed with chronic recurring Thrombotic Thrombocytopenic Purpura. In the early years AFTER MY DIgnosis. I had many exercerbations over a period of 13 years. I have been in remission for the past 8 years. I have learned recently that the disease is now thought to have a genetic link to the ADAMTS13 gene. When I was diagnosed, there was no such link thought to exist. I have three children, a boy 16 years old, from onr father who is deceased and would not be available for any testing. A girl, 7 years old, and another boy, 5 years old, from my current husband. I have never been tested fro any genetic relationship to my diagnosis. What testing should I have done for both myself and my children? I have a hemotologist where I live, can he order the testing, or do I need to see a geneticist for all of us? What is the liklihood that I have the genetic form of the TTP, and if I do, what is the liklihood that my children will have it? Is there any information on what causes an exacerbation of the TTP when in remission? View Answer |
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2006-04-18 |
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what is the locus of an Acute Intermittent Porphyria disease? View Answer |
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2006-04-16 |
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I have two daughters, ages 15 and 11. Their father has just been diagnosed with V Leiden thrombophilia. Should I have them tested as well? Until they are tested, I want to be aware of any over the counter medications that could be potentially dangerous if they do have this condition. Anything you could tell me about precautions would be greatly appreciated! View Answer |
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2006-03-28 |
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How early can hemphilia be detected? View Answer |
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2006-03-12 |
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A good friend is carrier of sickle cell trait, as is her fiance.
They are asking if there is any drug they can use to help prevent getting a baby with sickle cell disease, while still conceiving their own child?
What do geneticists recommend in their case?
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2006-03-08 |
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My son has the trait of sickle cell, and I was wondering how did he get it. My girlfriend and I don't have the trait,but my mother does and I was wondering if it can be pass down to him from my mother and skip me. I also have diabetes. View Answer |
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2006-03-08 |
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what population is at risk (ethnic/ancestral groups) of having porphyria? and also what is the Life expectancy of the individual who has the disease? Is there any current reasearch going on to help treat porphyria in the future? View Answer |
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2006-03-06 |
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I WAS WONDERING IF ACUTE PORPHERIA HAD SYMPTOMS OF RESPORITOY FAILURE COULD YOU PLEASE LET ME KNOW View Answer |
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2006-03-03 |
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My sister's daughter was diagnosed with Thrombophilia. My sister was tested for it and she is waiting for the results. Her husband was tested for it and it was found that he has one positive and one negative gene for it. My question is if I should be tested for it? View Answer |
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2006-03-02 |
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Does Variegate Porhyria always have skin manifistations or if the symptoms match AIP is it still a plausable diagnosis. My husband's test came back evelevated (5 fold) with Pophyrins that would tend to lead to Variegate since AIP Porphyrins were not elevated. He does have some rashes appearing on his face (which they once though was Lupus but ruled out). How long after "attack" symptoms start before skins symptoms might manifest themselves? Thank you. View Answer |
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2006-02-28 |
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Mother is thalassemia minor, father is normal, she is expecting twins, what will be the probability of twins having a thalssemia minor/major View Answer |
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2006-02-28 |
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what is everyday life like with hemophilia? View Answer |
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2006-02-28 |
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I am doing an assignment on Sickle cell anaemia and i was wondering if you could help me with a few questions that would be much apreciated.
-where abouts is the Sickle cell anaemia gene located?
-what is the alteration to the genetic code that cause this disease?
-How is protien production effected?
-What is the nature of this disease?
-How effective is the treatment and how does it ocntribute to the quality of life to the patient?
- Are there any social econmic or ethical issues associated with the diagnosis, treatment and managment of the disease?
- Is there current research into new ways to treat the diease with biotechnology technigues? View Answer |
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2006-02-27 |
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I am a 48 yr old african american male with sickle cell trait. I did not notice symptoms until my early 20's when I had problems (severe abdominal pain) at high altitudes (greater than 7000ft). I have recently noticed that the symptoms manifest themselves at lower altitudes - this past summer, I started feeling "queasy" at 3500ft and returned to below 2000ft wwhen I felt fine again. I realize that I cannot exercise in high altitudes nor drink alcohol as both of those exacerbate my symptoms. But I have two questions - first as I get older, is it normal for my symptoms to occur at lower and lower altitudes and secondly is there anything I can do to allow myself to visit areas up to 7000ft. Are hydration and acclimatization the best ways? View Answer |
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2006-02-24 |
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Could you please advise on the status of investigations regarding cure of Thalassemia Major using Hydroxyurea or any other drugs. We would also like to be advised on the safety and Drug Approval of Oral Chelation. View Answer |
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2006-02-23 |
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I have 3 kids; we just found out their father had porphyria cutnea tarda. He also had hepatis B and C and was a alcoholic. I was wanting to know what are the odds of them having porphyria? Or was their father's case sporadic? View Answer |
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2006-02-22 |
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I have been told I have Thrombophilia Factor V, I want to go Suba Diving this year, am I ok to do this? Are there any risks? View Answer |
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2006-02-21 |
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Two of my 3 children have been diagnosed with Factor V Leiden disorder. My wife and I have been tested and our tests have come back negative for this disorder. My wife's father has recently been tested and the test came back positive for Factor V Leiden. Does it make sense for my wife not to have Factor V Leiden? Should she be retested? What likelihood will my grandchildren have to be postive for the disorder? View Answer |
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2006-02-21 |
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I am concerned about Hemachromatosis. My results are
HFE C282Y Mutation Not Detected
HFE H63D Mutation Heterozygous
HFE S65C Mutation Heterozygous
?The S65C mutation may be implicated in mild iron overload when inherited in the compound heterozygous state with either C282y or H63D.?
S. Ferritin 466 ug/l
S. Iron 16 umol/L
S.Ibc 57 umol/L
Iron Saturation 28 %
I have fatique, mild depression and anxiety, low sex drive. Could the high iron levels be affecting me ?What do you think ? View Answer |
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2006-02-16 |
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I just found out that I have MTHFR. My father and sister have this too. My sister is having trouble holding on to a pregnancy. I have had 3 children successfully. What are the chances of my children having this blood clotting problem? What do you know about this? View Answer |
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2006-02-16 |
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What is MthFr Double Heterozygote? Is it positively an inherited disease? How do I explain this to my family doctor or my heart doctor? Or what should I ask my family Doctor? View Answer |
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2006-02-13 |
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My father died of idiopathic thrombocytopenia. an autopsy was done and they found that analysis of the bone marrow showed some random gins and lossses with a trisomy 8 in 30 What does "some random gains and losses with a trisomy 8 in 30% of the cells"-determined in bone marrow indicate or mean? This was found at my fathers autopsy
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2006-02-08 |
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I am a carrier for sickle cell anemia, and I have been experiencing leg and arm pain for about 5 years now. I never thought it was anything serious, but lately I have had consistent pain in my arm for about 3 months. I was wondering if by being a carrier, I was prone to any of the symptoms caused by sickle cell disease? View Answer |
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2006-02-06 |
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I needed to do a project of Sickle cell Anemia and could not find some facts about it. When was Sickle cell Anemia discovered. What was a time in the history of the U.S when Sickle cell Anemia was common. Is is more common is girls or in boys. What are the populations mostly affected by Sickle cell Anemia.
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2006-02-06 |
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I am trying to understand the significance of Protein C and its relationship to the clotting factor. Does having Factor V inhibit or inactivate Protein C in the clotting process? View Answer |
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2006-01-31 |
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My 34 yr old daughter tested positive to Leiden Factor V (both genes). At age 18 1/2 she had a pulmonary Embolism after birth of 1st daughter (has 2 daughters that both test positive to Leiden Factor V). She has back pain, no feeling in toes of left leg, and weak tingling left leg,arm,joint shooting pains, shakey. GP did MRI (1/20)diagnoise bulged disk,to PT(1/23 & 25)slight relief. No red rash,some swelling in ankle of l.leg. Can a clot be developing in her back. Need a specialist in area. Healthy Father died @ 53 in middle of conversation in mountians on hunting trip(11/95). His brother @ age 52 hospitalized 28 days with \\"thick blood\\" (6/05) first one w/ LFV positive test-his 2 daughters test positive to 1 factor LFV. Should my daughters GP be instructed to order ultra sound for further testing? What is prognosis? View Answer |
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2006-01-26 |
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I just found out that my ex- mother- in -law has Factor V Leidens Thrombophilia, do I need to worry and have her two male grandchildren tested? View Answer |
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2006-01-24 |
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Can partners who are both AS genotypes get married? And what are the chances they will has a child with the Sickle cell disease?
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2005-11-03 |
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I am 52 years old-had an angioplasty of LAD for MI at 34 years old.-unknown cause-very low cholesterol level- had a TIA (lost part of my vision) for approx. 10 minutes and an MRI shows significant ischemic brain damage-unknown cause-bubble test was negative for PFO. My mother died suddenly at 42 (had bronze color skin) and my brother was diagnosed with Hemachromatosis and is haveing ongoing treatment (phlebotomy) and has liver damage. I have a genetic test which states I am heterozygous for the Cys282Tyr mutation of the Hfe gene that has shown to be associated with hemochromatatosis. Is there any possibility this could be connected to my illness? The genetic person wrote low risk on the original test done 2001-before my new diagnosis and she did not have any other medical info about me. Should I ask futher about this??
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2005-10-23 |
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What chromosomes are affected in sickle cell disease? View Answer |
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2005-10-16 |
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My Father has an inherited blood disease, commonly called iron overload. his doctor told him very little about it and said to look it up on the internet. I have tried but I can't find out much about drugs he can not take. more info would help. View Answer |
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2005-09-24 |
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I am 45 and just found out I have hemochromatois. There was never any mention of this in my family histroy. My mother says it came from her because her bloodtype is A+. I have A+. My sister has O bloodtype and just found out she has hemochromatosis as well. How did this happen? View Answer |
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2005-09-14 |
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I am AS genotype and my husband is also AS genotype. There is a possibility to give birth to (SS) sickle cell. What advice do you suggest as not to have (SS) sickle cell, as we are about to start having our kids? View Answer |
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2005-09-14 |
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I am a 26 years old girl who is beta thalassaemic trait. My problem is that I am in love with a man who used to be married and has 2 children and one of them is having sickle thalassaemia. The man I love was found to have 20% sickling in his blood. We both do love each other since month before but because both of us are aware of our genetics, we decided not to get married because we don't want to give rise to a sick humanbeing. The problem that we still love each other and we don't know what we can do, we think there is no solution because it is a problem created within ourselves and will not ever be solved. I decided to contact you as a specialist who may give us a hope in our problem. So is there really a hope? View Answer |
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2005-09-14 |
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My husband and I carry the sickle cell trait and we want children - is itpossible for us to have a healthy baby? We are African American and both 29 and want children badly. View Answer |
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2005-09-14 |
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My sister has just been diagnosed with PNH. How can we learn more about this disease and potential clinical studies? View Answer |
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2005-09-14 |
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