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Word Count: 1,104
In the human body each cell contains 23 pairs of chromosomes one ofeach pair inherited through the egg from the mother and the otherinherited through the sperm of the father Of these chromosomes those thatdetermine sex are X and Y Females have 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 factor VIIIand factor IX1 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 rare2 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 VIIIC3 In most of the cases this coagulantprotein is reduced but in a rare amount of cases this protein is presentby immunoassay but defective4 Haemophilia A is the most common severebleeding disorder and approximately 1 in 10000 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 55 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 theplasma from a haemophiliac person mixes with that of a normal person
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