Chicago Center for Jewish Genetics Disorders - Ashkenazi Disorders: Factor XI Deficiency

Ashkenazi Disorders: Mendelian

Gene: Factor XI deficiency in caused by mutations in the F11 gene, which is located at 4q35. It encodes for the protein Factor XI or plasma thromboplastin antecendent (PTA), which is involved in blood coagulation.

Mutations and testing: Deficiency may be recognized by specific Factor XI assay or abnormal partial thromboplastin time.

Traits: Mutations in the F11 gene lead to impaired clotting of the blood. Spontaneous bleeding is very rare but patients, including heterozygotes, may have prolonged bleeding after surgery, dental extractions, or with menstrual periods. The severity of the bleeding episodes does not entirely correlate with the level of Factor XI.

Treatment: For minor bleeding episodes, fresh frozen plasma can be used. It is also possible to use antifibrin therapies, which block plasmin from dissolving blood clots. Use of Plasma concentrate of Factor XI may be necessary for major surgery.

Other: Factor XI deficiency was originally called hemophilia C. Hemophilia A is Factor VIII deficiency and Hemophilia B is Factor IX deficiency.

Reviewed by Dr. Joel Charrow, Children's Memorial Hospital.
1/03

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This page last updated on January 10, 2003.