Christmas Disease

Information and facts about Eponymous diseases.

Haemophilia B (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.

Genetics and pathophysiology

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.

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