Summary:
Haemophilia has been recognized a clinical entity since
Biblical times when there was repeated history of death
from circumcisional bleeding in male siblings. Recent
advances in protein chemistry and recombinant DNA
technology have produced a comprehensive account both
of normal coagulation and of the molecular genetics of
some type of haemophilia. Haemophilia is a hereditary
coagulation disorders usually of male associated with
serious bleeding which is transmitted by healthy women.
It is caused by a reduction in the amount or activity of
factor VIII. This protein serves as a cofactor for factor IX
in the activation factor X in the coagulation cascade.
Haemophilia A & Haemophilia B exhibit a wide range of
clinical severity that correlate well the level of factor VIII
activity. Those with less than 1% of normal activity
develop severe disease; levels between 2% and 5% of
normal are associated with moderate disease; and patient
with 6% to 50% of activity developed mild disease. The
variable degrees of factor VIII deficiency are largely
explained by heterogenecity in the causative mutation.