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Genetic Disorders: Haemophilia A

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Haemophilia A is an inherited genetic disorder which causes a bleeding tendency, mainly into joint spaces. This is due to the inadequacy of clotting, (L.A.Valentino et al 2012). This disease is developed from a mutation of the gene F8 which contains information on how to make the protein, coagulation factor VIII in the plasma which contributes to blood clotting. Therefore the disruption of this process leads to prolonged bleeding, (Konkle BA, Josephson NC and Nakaya Fletcher S, 2000). The key symptom of Haemophilia A is joint and muscle bleeding, (R.Ljung et al 1990). There can also be excessive bruising and other bleeding elsewhere such as in soft tissues, urine and mouth particularly in children. Haemophilia A could lead to arthropathy as …show more content…

Males have one X chromosome and one Y chromosome whilst females have two X chromosomes. Therefore if females have one of their X chromosomes containing the faulty gene F8, there is a chance they may have that gene working in their other X chromosome. On the other hand, if the one X chromosome that males have contains the faulty gene, they will have Haemophilia A. Therefore most people with Haemophilia A are males, .

After treatment for Haemophilia A, inhibitors can develop in the body and attach to the protein factor VIII that has been inserted causing it to restrain its function of blood clotting. Inhibitors can be developed in individuals with moderately severe or severe Haemophilia A. They develop to go against certain parts of the protein factor VIII; researchers use this knowledge to alter factor VIII used in treatment so that it stimulates less inhibitor to form, (Donna M. Dimichele 2008). They are also studying the links between the immune system and the disease as activities of the T and B cells seem to have a contribution on the development of the inhibitors as well as a few of the immune signalling proteins. This will lead to bypass therapy which allows blood clotting without the use of factor VIII, but instead other products such as prothrombin complex concentrates. However, the disadvantage of this product is that it could cause excessive

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