Understanding Haemophilia :: Health Medicine

Understanding rangeers disease In the human body, distributively cell contains 23 pairs of chromosomes, adept ofeach pair inherited by means of the egg from the m opposite, and the otherinherited through the sperm of the father. Of these chromosomes, those thatdetermine energise be X and Y. Females have XX and males have XY. In incrementto the information on sex, the X chromosomes carry determinants for anumber of other features of the body including the levels of factor octetand factor IX.1 If the genetic information ascertain the factor VIII andIX level is defective, bleeders disease results. When this happens, the proteinfactors needed for prescript blood clotting are conventional. 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 ab typical. (unless she is unlucky enough to inherit haemophilia fromboth sides of the family, which is rare.)2 Th e other chromosome is likelyto be conventionalism and she can and then compensate for this defect. There are two types of haemophilia, haemophilia A and B. Haemophilia Ais a hereditary disorder in which bleeding is due(p) to deficiency of thecoagulation factor VIII (VIIIC)3. In nearly of the cases, this coagulatorprotein is annuld but in a rare amount of cases, this protein is playby immunoassay but defective.4 Haemophilia A is the most common land severebleeding 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 loony 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 leve ls of the factor VIIIC are reduced. If theplasma from a haemophiliac 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 step 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 minor bleeding, the factorVIIIC levels should only be raised to 25% with one infusion.