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hemophilia B

pathology
Also known as: factor IX deficiency

Quick Summary

Hemophilia B, also known as Christmas disease, is a hereditary bleeding disorder caused by a deficiency of factor IX, a substance necessary for blood clotting. This deficiency leads to an increased tendency to bleed, which can become noticeable early in life. Symptoms may include large bruises, bleeding from the mouth, nose, or gastrointestinal tract, and frequent hemorrhages in the joints, causing swelling and impaired function. Hemophilia B is sex-linked, primarily affecting males, and is transmitted by females. Treatment involves infusions of clotting factor, which can be derived from human blood or produced through recombinant DNA technology. Gene therapy has also shown effectiveness in correcting factor IX deficiency.123

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