Understanding Haemophilia :: Health Medicine

Understanding Haemophilia In the human body, each cell contains 23 yokes of chromosomes, unitary ofeach pair inherited through the egg from the mother, and the otherinherited through the sperm cell of the father. Of these chromosomes, those thatdetermine sex argon X and Y. Females puddle XX and males have XY. In additionto the information on sex, the X chromosomes carry determinants for anumber of other features of the body including the levels of part ogdoadand component IX.1 If the familial information determining the ingredient VIII andIX level is defective, bleeders disease results. When this happens, the proteinfactors needed for standard blood clotting are effected. In males, the championX 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 comely to inherit bleeders disease fromboth sides of the family, which is idealistic.)2 The other chromosome is likelyto be normal and she can therefore compensate for this defect. There are two types of haemophilia, haemophilia A and B. Haemophilia Ais a hereditary disorder 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 crude(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 loco if they levels become 5+%.5 Those with mild haemophilia bleed only in receipt 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 VIII C are reduced. If theplasma from a haemophiliac mortal mixes with that of a normal person, thePartial thromboplastin time (PTT) should become normal. blow 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 minor bleeding, the factorVIIIC levels should only be raised to 25% with one infusion.