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Christmas Disease

Medical Questions » Christmas Disease
Name: Christmas Disease
Also known as: Factor IX Deficit, Haemophilia B
A lack of one of the essential factors responsible for the clotting of blood.
Causes of Christmas Disease
An inherited lack of factor IX. The gene for the disease is carried by women on the X chromosome, but can only affect men (sex linked inheritance).
Symptoms of Christmas Disease
Excessive bleeding from a cut, severe bruising from a minor injury, bleeding into joints to cause arthritis, internal bleeding into the gut and other organs.
Tests for Christmas Disease
Specific blood tests can confirm the diagnosis.
Treatment for Christmas Disease
Injections of the missing coagulation factor to prevent excessive bleeding when it occurs. Insufficient is available to be given regularly to prevent bleeding. The factor is obtained from blood donations.
Complications of Christmas Disease of its treatment
Arthritis, infertility, damage to other organs from bleeding, chronic weakness, shorter than normal lifespan.
Likely Outcome of Christmas Disease
Statistically, half the children of a woman who carries the responsible gene will have the disease. No permanent cure available. Incidence 1:40,000.
       
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