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Haemophilia B
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 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.[1] In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.[2] Additional recommended knowledge
TreatmentTreatment (bleeding prophylaxis) is by intravenous infusion of factor IX. GeneticsThe 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. PathophysiologyFactor 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. References
See also
Categories: Blood disorders | Genetic disorders |
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Haemophilia_B". A list of authors is available in Wikipedia. |