Haemophilia B

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).

This article is about the bleeding disorder with factor IX deficiency. For the disorder with factor VIII deficiency, see haemophilia A.
Haemophilia B
Other namesHemophilia B, Christmas disease
This condition is inherited in an X-linked recessive manner.
SpecialtyHaematology
SymptomsEasy bruising
CausesFactor IX deficiency
Diagnostic methodBleeding scores, Coagulation factor assays
TreatmentFactor IX concentrate

Haemophilia B was first recognized as a distinct disease entity in 1952. It is also known by the eponym Christmas disease, 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.

Most individuals who have Hemophilia B and experience symptoms are men. The prevalence of Hemophilia B in the population is about one in 40,000; Hemophilia B represents about 15% of patients with hemophilia. Many women carriers of the disease have no symptoms. However, an estimated 10-25% of women carriers have mild symptoms; in rare cases, women may have moderate or severe symptoms.

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