Molecular etiology of factor VIII deficiency in hemophilia A
The gene for factor VIII (F.VIII) is located on the human X chromosome; and, consequently hemophilia A is a classic example of X-linked recessive inheritance. It occurs almost exclusively in males who have only one X chromosome; females with one abnormal F.VIII gene are asymptomatic carriers because the other X chromosome contains a normal gene. The frequency of the disorder is 1–2 in 10,000 male births in all ethnic groups. The severity and frequency of bleeding in the patients correlates with the F.VIII activity in plasma (Rizza et al., 1983; Hoyer, 1987).
KeywordsCodon Tyrosine Recombination Cysteine Carboxyl
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