Haemophilia B

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Haemophilia B is a blood disorder that prevents blood from clotting properly. This is a rare genetic disorder that is usually inherited. It is caused by a deficiency of Factor IX, a clotting protein.

Symptoms[edit | edit source]

The symptoms of Haemophilia B can vary greatly, depending on the severity of the disorder. Some of the most common symptoms include:

  • Bleeding that is difficult to stop, even from minor wounds
  • Frequent and unexplained nosebleeds
  • Blood in the urine or stool
  • Unusual bruising
  • Joint pain and swelling

Causes[edit | edit source]

Haemophilia B is caused by a mutation in the F9 gene, which is responsible for producing Factor IX. This mutation can be inherited from a parent, or it can occur spontaneously.

Diagnosis[edit | edit source]

Diagnosis of Haemophilia B is usually made through a blood test that measures the level of Factor IX in the blood. Other tests may be used to rule out other conditions that can cause similar symptoms.

Treatment[edit | edit source]

Treatment for Haemophilia B typically involves replacing the missing Factor IX through infusions of a clotting factor concentrate. Other treatments may include medications to prevent blood clots, and physical therapy to manage joint damage.

See also[edit | edit source]

References[edit | edit source]


Haemophilia B Resources

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Contributors: Prab R. Tumpati, MD