Hemophilia B

Haemophilia B
ICD-10	D67.
ICD-9	286.1
OMIM	306900
DiseasesDB	5561
MedlinePlus	000539
MeSH	D002836

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Haemophilia B; hæmophilia B; haemophilia type B; hereditary factor IX deficiency; christmas disease

Overview

Hemophilia B is a blood clotting disorder caused by a mutation of the Factor IX gene. It is the second most common form of haemophilia, rarer than haemophilia A. It is sometimes called Christmas disease after Stephen Christmas, the first patient described with this disease. In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.

Pathophysiology

Factor IX deficiency leads to an increased propensity for haemorrhage. This is in response to mild trauma or even spontaneously, such as in joints (haemarthrosis) or muscles.

Genetics

The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is inherited X-linked recessive, which explains why - as in haemophilia A - mostly males are generally affected.

Treatment

Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX.

Related Chapters

• Haemophilia
• Haemophilia A
• Haemophilia C