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Maite Solé Wrote: ------------------------------------------------------- > Dear John > > Haemophilia A is the most common bleeding disorder > affecting 1 in 5.000 to 1 in 10.000 males. > It is an X-linked recessive disorder due to > deficiency of coagulation factor VIII. > Clinical severity varies considerably and > correlates with residual factor VIII activity. > Activity of 1% leads to severe disease that occurs > in about half of affected males and may present at > birth. > Activity of 1 - 5% leads to moderate disease, > Activity of 5 - 25% leads to mild disease that > may not require treatment. > Affected individuals have easy bruising, prolonged > bleeding from wounds, and bleeding into joints and > muscles after relatively mild trauma. Repeated > bleeding into joints causes a chronic inflammatory > reaction leading to haemophiliac arthropathy with > loss of cartilage and reduced joint mobility. > Treatment using human plasma or recombinant factor > VIII controls acute episodes and is used > electively for surgical procedures. > Up to 15% of treated individuals develop > neutralising antibodies that reduce the efficiency > of treatment. > Prior to 1984, haemophiliacs treated with blood > products were exposed to the human immnodeficiency > virus which resulted in a reduction in life > expectancy to 49 years in 1990, compared to 70 > years in 1980. > The factor VIII gene (F8C) is located on the X > chromosome at Xq28 region. Mutation analysis is > used effectively in carrier detection and prenatal > diagnosis. > A range of mutations occur in the factor VIII gene > with point mutations and inversion mutations > predominating. > If you like to know which will be your risk in a > future pregnancy, go inside the index web at " > What happens when our recipes combine with our > partner´s recipes", page 3........ clik on, > disorders linked to the X-sex > chromosome,........recessive: > a.- If your wife is a carrier, for the next > pregancy you will be in option A . > b.- If your son will reproduce in a future, he > will be C, B or D options > If you like to get more information about the > disease, use the links inserted at the end of page > 4, or establish contact with foundations or > support organizations, you can get some of them, > using the link number 8 ( Birth > Defects-Genetics-Teratology-Foundations- Support > Organizations) located at "links of interest". > > Maite Solé
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