Author Topic: Haemophilia is a genetic disorder  (Read 368 times)

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Offline SCRepublic

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Haemophilia is a genetic disorder
« on: November 04, 2008, 11:08:41 PM »
Haemophilia (also spelled as hemophilia, from the Greek haima "blood" and philia "to love"[1]) is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation. In its most common form, Hemophilia A, clotting factor VIII is absent. In Haemophilia B, factor IX is deficient. Hemophilia A occurs in about 1 in 5,000–10,000 male births[2], while Hemophilia B occurs at about 1 in about 20,000–34,000.

The effects of this sex-linked, X chromosome disorder are manifested almost entirely in males, although the gene for the disorder is inherited from the mother. Females have two X chromosomes while males have only one, lacking a 'back up' copy for the defective gene. Females are therefore almost exclusively carriers of the disorder, and may have inherited it from either their mother or father.

These genetic deficiencies may lower blood plasma clotting factor levels of coagulation factors needed for a normal clotting process. 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 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. The critical risk here is with normally small injuries which, due to missing factor VIII, take long times to heal. In areas such as the brain or inside joints this can be fatal or permanently debilitating.

The bleeding with external injury is normal, but incidence of late re-bleeding and internal bleeding is increased, especially into muscles, joints, or bleeding into closed spaces. Major complications include hemarthrosis, hemorrhage, gastrointestinal bleeding, and menorrhagia.

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Haemophilia is a genetic disorder
« on: November 04, 2008, 11:08:41 PM »
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