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Brian Blanchard Birk Nielsen Hemophilia Birk Nielsen Brian Blanchard Slide 2 Hemophilia is a recessive sex-linked, X-chromosome disorder that, because its on the X chromosome, is more prevalent in males than females. For a male to inherit it, the genotypes could be: XX XY, XX XY, XX XY, XX XY, XX XY (X means X chromosome with hemophilia gene) Slide 3 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide. Slide 4 XY XXXXY XXXXY XY XXXXY XXXXY XY XXXY XXXXY 25% 50% 0% Slide 5 XY XXXY XXXXY XY XXXXY XXXXY 50% 100% Slide 6 Severe hemophilia can be detected within the first year of life and often in the newborn period in males that are circumcised and have excessive bleeding after the procedure. Milder forms of the condition may not be detected until the time of surgery or a major injury. Slide 7 People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury. Slide 8 The life expectancy of someone with hemophilia varies depending on whether they receive proper treatment. Without adequate treatment, many people with hemophilia die before they reach adulthood. However, with proper treatment, life expectancy for people with hemophilia is about 10 years less than that of males without hemophilia, and children can look forward to a normal life expectancy. Slide 9 Hemophilia is treated by replacing the missing clotting factor in the blood. This is done by injecting a product that contains the needed factor into a vein. Bleeding stops when enough clotting factor reaches the bleeding site. Slide 10 There is no cure for hemophilia yet but gene therapy remains an exciting possibility and holds out the prospect of a partial or complete cure for hemophilia. Also they are trying Recombinant factor VIII - genetically engineered to avoid risks of disease transmission by infusion. Recombinant factor IX Gene Therapy Slide 11 Everyday life for a hemophiliac is similar to a healthy persons, they just have to be somewhat cautious of avoiding things that would make them bleed. The quality of life for hemophiliacs is not lowered that much, extra precautions just have to be made. If they get regular platelet transfusions, then the quality of life isnt affected at all. Slide 12 Hemophiliacs should avoid activities that put them near sharp objects that might cut them. However, if they are being treated then they dont have to worry about the activities they partake in. Slide 13 http://geneticalliance.org/ http://ghr.nlm.nih.gov/Res ources/patients http://ghr.nlm.nih.gov/Res ources/patients Slide 14 It is extremely possible that a cure will be found in the near future. It is most likely going to be found with the gene therapy