Severe Hemophilia A

Watchlist
Retrieved
2021-01-23
Source
Trials
Drugs

Severe hemophilia A is a form of hemophilia A (see this term) characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.

Epidemiology

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

Clinical description

The biological activity of factor VIII is below 1%.

Etiology

The disorder is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII.

Genetic counseling

Transmission is X-linked recessive.