Haemophilia - What is Haemophilia?

Haemophilia (also spelled hemophilia in North America),  is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, occurring at about 1 in 5,000–10,000 male births. Haemophilia B (factor IX deficiency) occurs at about 1 in about 20,000–34,000 male births.

Similarly to most recessive sex-linked, X chromosome disorders, hemophilia is more likely to occur in males rather than females. This is because females have two X chromosomes while males have only one, lacking a 'back up' copy for the defective gene the defective gene becomes manifest more easily in males. Because females have two X chromosomes and because haemophilia is rare, the chance of a female having two defective copies of the gene is very low, thus females are almost exclusively asymptomatic carriers of the disorder. Female carriers may inherit the defective gene from either their mother, father, or it may be a new mutation. Only under rare circumstances do females actually have haemophilia.

Haemophilia lowers blood plasma clotting factor levels of the coagulation factors needed for a normal clotting process. Thus when a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation, which is necessary to maintain the blood clot. Thus a haemophiliac does not bleed more intensely than a normal person, but can bleed for a much longer amount of time. In severe haemophiliacs even a minor injury could result in blood loss lasting days, weeks, or not ever healing completely. In areas such as the brain or inside joints, this can be fatal or permanently debilitating.

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