GTR Home > Conditions/Phenotypes > Hereditary factor VIII deficiency disease

Disease characteristics

Excerpted from the GeneReview: Hemophilia A
Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor VIII clotting activity. In severe hemophilia A, spontaneous joint or deep-muscle bleeding is the most frequent symptom. Individuals with severe hemophilia A are usually diagnosed during the first two years of life; without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month. Individuals with moderate hemophilia A seldom have spontaneous bleeding; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies, usually from once a month to once a year. Individuals with mild hemophilia A do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding episodes varies widely, typically from once a year to once every ten years. Individuals with mild hemophilia A are often not diagnosed until later in life. In any individual with hemophilia A, bleeding episodes may be more frequent in childhood and adolescence than in adulthood. Approximately 10% of carrier females are at risk for bleeding (even if the affected family member is mildly affected) and are thus symptomatic carriers, although symptoms are usually mild. After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity.

Associated genes

  • Also known as: RP11-115M6.7, AHF, DXS1253E, F8B, F8C, FVIII, HEMA, F8
    Summary: coagulation factor VIII, procoagulant component

Clinical features

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  • Prolonged partial thromboplastin time
  • Persistent bleeding after trauma
  • Bruising susceptibility
  • Degenerative joint disease
  • Abnormal bleeding
  • Reduced factor VIII activity
  • Joint hemorrhage
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