Hemophilia B
Hemophilia B
Hemophilia B (pronounced: hee-muh-FIL-ee-uh bee), also known as Christmas disease, is a rare genetic disorder characterized by the inability of the blood to clot properly. This condition is caused by a deficiency of a blood clotting protein known as Factor IX.
Etymology
The term "Hemophilia B" is derived from the Greek words "haima" meaning blood, and "philia" meaning love. The "B" in Hemophilia B denotes its distinction from Hemophilia A, which is caused by a deficiency in a different clotting factor, Factor VIII. The alternative name, "Christmas disease", is named after Stephen Christmas, the first patient diagnosed with this condition.
Symptoms
Symptoms of Hemophilia B include excessive bleeding, easy bruising, and prolonged bleeding after injuries or surgery. Individuals with this condition may also experience spontaneous bleeding episodes, particularly into joints and muscles, which can lead to chronic joint damage.
Diagnosis
Diagnosis of Hemophilia B is typically made through blood tests that measure the level of clotting factors in the blood. Genetic testing may also be used to identify mutations in the F9 gene, which is responsible for producing Factor IX.
Treatment
Treatment for Hemophilia B primarily involves replacing the missing Factor IX through infusions of Factor IX concentrate. This can be done on a regular basis to prevent bleeding episodes (prophylaxis), or as needed to control bleeding.
Related Terms
External links
- Medical encyclopedia article on Hemophilia B
- Wikipedia's article - Hemophilia B
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