Understanding Haemophilia :: Health Medicine

Understanding Haemophilia In the human body, each cell contains 23 pairs of chromosomes, one ofeach pair get through the egg from the mother, and the otherinherited through the sperm of the father. Of these chromosomes, those thatdetermine sex be X and Y. Females have XX and males have XY. In rise to powerto the information on sex, the X chromosomes carry determinants for anumber of other features of the body including the levels of element VIIIand factor IX.1 If the genetic information determining the factor VIII andIX level is defective, haemophilia results. When this happens, the proteinfactors needed for normal blood clotting are effected. In males, the singleX chromosome that is effected cannot compensate for the lack, and hencewill show the defect. In females, however, only one of the two chromosomeswill be abnormal. (unless she is unlucky enough to inherit haemophilia fromboth sides of the family, which is out of date.)2 The other chromosome is probablyto be normal and she can therefore compensate for this defect. There are two types of haemophilia, haemophilia A and B. Haemophilia Ais a hereditary disturb in which bleeding is due to deficiency of thecoagulation factor VIII (VIIIC)3. In most of the cases, this coagulantprotein is reduced but in a rare amount of cases, this protein is presentby immunoassay but defective.4 Haemophilia A is the most common utter(a)bleeding disorder and approximately 1 in 10,000 males is effected. The mostcommon types of bleeding are into the joints and muscles. Haemophilia issevere if the factor VIIIC levels are less that 1 %, they are moderate ifthe levels are 1-5% and they are mild if they levels become 5+%.5 Those with mild haemophilia bleed only in response to major trauma orsurgery. As for the patients with severe haemophilia, they can bleed inresponse to relatively mild trauma and will bleed spontaneously. In haemophiliacs, the levels of the factor VIIIC are reduced. If the germ plasm from a h aemophiliac person mixes with that of a normal person, thePartial thromboplastin time (PTT) should become normal. Failure of the PTTto become normal is automatically diagnostic of the presence of a factorVIII inhibitor. The standard treatment of the haemophiliacs is primarilythe infusion of factor VIII concentrates, now heat-treated to reduce thechances of transmission of AIDS.6 In the case of mild bleeding, the factorVIIIC levels should only be raised to 25% with one infusion.