Hemophilia A pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Overview

• The pathogenesis of hemophilia A is characterized by genetic deficiency in Factor VIII.

Pathophysiology

• The F8 gene associated with the development of Hemophilia A is located close to the tip Xq, and affects production of clotting factor VIII. Abnormalities in the F8 gene cause a relative deficiency in factor VIII, resulting in improper hemostasis and abnormal or excessive bleeding.
• This trait is inherited in an X-linked recessive manner, affecting males and homozygous females (very rare).
• One-third of new cases of Hemophilia A are due to spontaneous mutations in the X-chromosome, not inherited from either parent.
• In rare cases, individuals may develop hemophilia later in life. This acquired form of the disease results from development of antibodies to factor VIII.