Severe Hemophilia B

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Retrieved
2021-01-23
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Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.

Epidemiology

Severe hemophilia B accounts for around 40% of all cases of hemophilia B.

Clinical description

The biological activity of factor IX is below 1%.

Etiology

The disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX.

Genetic counseling

Transmission is X-linked recessive.