Everything about Christmas Disease totally explained
| ICD9 =
| ICDO =
| Image =
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| OMIM = 306900
| MedlinePlus = 000539
| eMedicineSubj = emerg
| eMedicineTopic = 240
| DiseasesDB = 5561
| MeshID = D002836
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Haemophilia B (also spelled
Hemophilia B or
Hæmophilia B) is a
blood clotting disorder caused by a
mutation of the
Factor IX gene, leading to a deficiency of Factor IX. It is the least 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.
Treatment
Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX. Factor IX has a longer half life than factor VIII (Deficient in Haemophilia A) and as such factor IX can be transfused less frequently.
Genetics
The factor IX gene is located on the
X chromosome (Xq27.1-q27.2). It is an
X-linked recessive trait, which explains why, as in haemophilia A, only males are usually affected.
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.
Further Information
Get more info on 'Christmas Disease'.
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