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Haemophilia B



Haemophilia B
Classification & external resources
ICD-10 D67.
ICD-9 286.1
OMIM 306900
DiseasesDB 5561
MedlinePlus 000539
eMedicine emerg/240 
MeSH D002836

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

Contents

Treatment

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

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.

References

  1. ^ Christmas' disease at Who Named It
  2. ^ Biggs RA, Douglas AS, MacFarlane RG, Dacie JV, Pittney WR, Merskey C, O'Brien JR. Christmas disease: a condition previously mistaken for haemophilia. Br Med J 1952;2:1378-1382. PMID 12997790.

See also


 
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.
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