Haemophilia Essay

1415 words - 6 pages

HAEMOPHILIAIn the human body, each cell contains 23 pairs of chromosomes,one of each pair inherited through the egg from the mother, and theother inherited through the sperm of the father. Of thesechromosomes, those that determine sex are X and Y. Females have XXand males have XY. In addition to the information on sex, 'the Xchromosomes carry determinants for a number of other features ofthe body including the levels of factor VIII and factor IX.'1 Ifthe genetic information determining the factor VIII and IX level isdefective, haemophilia results. When this happens, the proteinfactors needed for normal blood clotting are effected. In males,the single X chromosome that is effected cannot ...view middle of the document...

If the plasma from a haemophiliac person mixes with that of anormal person, the Partial thromboplastin time (PTT) should becomenormal. Failure of the PTT to become normal is automaticallydiagnostic of the presence of a factor VIII inhibitor. The standardtreatment of the haemophiliacs is primarily the infusion of factorVIII concentrates, now heat-treated to reduce the chances oftransmission of AIDS.6 In the case of minor bleeding, the factorVIII:C levels should only be raised to 25% with one infusion. Formoderate bleeding, 'it is adequate to raise the level initially to50% and maintain the level at greater that 25% with repeatedinfusion for 2-3 days. When major surgery is to be performed, oneraises the factor VIII:C level to 100% and then maintains thefactor level at greater than 50% continuously for 10-14 days.'7Haemophilia B, the other type of haemophilia, is a result ofthe deficiency of the coagulation factor IX - also known asChristmas disease. This sex-linked disease is caused by the reducedamount of the factor IX. Unlike haemophilia A, the percentage ofit's occupance due to an abnormally functioning molecule is larger.The factor IX deficiency is 1/7 as common as factor VIII deficiencyand it is managed with factor VIII concentrates. Unlike factor VIIIconcentrates which have a half-life of 12 hours, the half-life offactor IX concentrates is 18 hours. In addition, factor IX(3)concentrates contain a number of other proteins, includingactivated coagulating factors that contribute to a risk ofthrombosis. Therefore, more care is needed in haemophilia B todecide on how much concentration should be used.The prognosis of the haemophiliac patients has beentransformed by the availability of factor VIII and factor IXreplacement. The limiting factors that result include disabilityfrom recurrent joint bleeding and viral infections such ashepatitis B from recurrent transfusion.8Since most haemophiliacs are male and only their mother canpass to them the deficient gene, a very important issue for thefamilies of haemophiliacs now is identifying which females arecarriers. One way to determine this is to estimate the amount offactor VIII and IX present in the woman. However, while a low levelconfirms the carrier status, a normal level does not exclude it. Inaddition, the factor VIII and IX blood levels are known tofluctuate in people and will increase with...

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