Haemophilia B
Genetic X-linked recessive bleeding disorder / From Wikipedia, the free encyclopedia
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Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency (haemophilia A).[3]
Haemophilia B | |
---|---|
Other names | Hemophilia B, Christmas disease |
This condition is inherited in an X-linked recessive manner. | |
Specialty | Haematology |
Symptoms | Easy bruising[1] |
Causes | Factor IX deficiency[1] |
Diagnostic method | Bleeding scores, Coagulation factor assays[2] |
Treatment | Factor IX concentrate[1] |
Haemophilia B was first recognized as a distinct disease entity in 1952.[4] It is also known by the eponym Christmas disease,[1] named after Stephen Christmas, the first patient described with haemophilia B. In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.[4][5]
Most individuals who have Hemophilia B and experience symptoms are men.[6] The prevalence of Hemophilia B in the population is about one in 40,000; Hemophilia B represents about 15% of patients with hemophilia.[6] Many women carriers of the disease have no symptoms.[6] However, an estimated 10-25% of women carriers have mild symptoms; in rare cases, women may have moderate or severe symptoms.[6]