Home Page > Diseases by Region: Ashkenazi > Factor XI Deficiency

Factor XI Deficiency
by Yael Rosenberg, RN

• Description
• Symptoms
• Incidence and Carriers
• Treatment
• Testing
• Screening Laboratories
• Resources & More
• Support Groups

Description
Factor XI Deficiency is a rare autosomal recessive disease, which is the result of the mutation of the F11 located on chromosome 4. This deficiency causes Hemophilia C. Factor XI is produced by the liver and is part of a chain of clotting factor responsible for stopping bleeding by forming a clot after an injury or surgery.  

Symptoms
   •   Symptoms vary from person to person even among familiy members. Symptoms are milder than Hemophelia A or B
   •   Proneness to bruising
   •   Hematuria
   •   Nosebleeds
   •   Protracted bleeding after childbirth
   •   Persistent bleeding after surgery or injury
   •   Heavy menstrual bleeding

Incidence and Carriers
Carrier Frequency: 1 in 8 to 1 in 10 in Ashkenazi Jews for type II and type III, Type II carrier frequency for Iraqi Jews is 1 in 30
Disease Frequency: 1 in 190 Ashkenazi Jews, 1 in 1,000,000 worldwide.
Type II and Type III mutations are the predominant causes of factor XI deficiency among Ashkenazi Jews

Treatment
Individuals are not given treatment for prevention. Rather treatment depends on the invasive procedure that is undergone. People undergoing surgery will be treated with fresh frozen plasma and will continue to receive it 7-14 after surgery. Pregnant women that will be undergoing cesarean section need fresh frozen plasma. However, it is controversial whether plasma should be given prenataly to women who will undergo vaginal deliveries. Though there is a high incidence of postpartum hemorrhage there is the risk of exposure to blood borne pathogens in the blood plasma. Factor replacement has been used successfully with dental procedures and excessive menstrual bleeding. It is further highly recommended that individuals receiving fresh frozen plasma with surgery should be immunized for Hepatitis A and B viruses.

Testing
Diagnosis: via blood test to determine the level of Factor XI level in the blood and to ascertain if there is a specific PTA genetic mutation.