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(also spelled '''Hemophilia B''' or '''Hæmophilia 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 .
Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX.
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 - only males are generally affected.
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.
- 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.
