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

Factor XI Deficiency
by Yael Rosenberg, RN

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.

Laboratories and Screening
The following laboratories offer genetic testing for Factor XI Deficiency:
     United States
     Israel
     Canada
     India
     Europe

UNITED STATES
Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092

Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874

SUNY Upstate Medical University
Molecular Diagnostic Laboratory
750 East Adams Street
Syracuse, NY 13210-1834
Phone: (315) 464-5540
Toll Free: (877) 464-5540
Antony Shrimpton, PhD, Director
Phone: (315) 464-6807
Email: shrimpta@upstate.edu
Celeste Lamberson, MS, MT(ASCP), Molecular Diagnostics Coordinator
Phone: (315) 464-6806
Email: lambersc@upstate.edu 

 ISRAEL
Sheba Medical Center
Coagulation Molecular Genetics Laboratory
Tel Hashomer 52621
Telephone: (+972) 3-350-2105
Fax: (+972) 3-535-1568
Web: http://www.sheba.co.il/Laboratory_Division

EUROPE
     Germany
     United Kingdom

GERMANY
Diagenom GmbH
Robert-Koch-Str. 10
D-18059 Rostock
Germany
Phone: (+49) 381-702-2750
Fax: (+49) 381-702-2759
Email: mail@diagenom.de

UNITED KINGDOM
Sheffield Children's NHS Foundation Trust
Sheffield Diagnostic Genetics Service
Sheffield, United Kingdom
Contact: Nick Beauchamp, PhD
Phone: (+44) 114- 271-7003
Fax: (+44) 114-275-0629
Email: nick.beauchamp@sch.nhs.uk

Support Groups
National Hemophilia Foundation
116 West 32nd Street
11th Floor
New York, NY 10001
Phone: (212) 328-3700
Fax: (212) 328-3777
HANDI Phone: (800) 42-HANDI
HANDI Fax: (212) 328-3799
Web: http://www.hemophilia.org/home.htm 

Canadian Hemophilia Society
National office in Montreal
400-1255 University Street
Montreal, QC H3B 3B6
Phone: (514) 848-0503
Toll-free: (800) 668-2686
Fax: (514) 848-9661
Email: chs@hemophilia.ca

The Haemophilia Society
Chesterfield House
385 Euston Road
LONDONNW1 3AU
Toll Free Helpline: (0800) 018-6068
Phone: (+ 44) 20-7380-0600 (administration)
Fax: (+44) 20-7387-8220
Email: info@haemophilia.org.uk
Web: http://www.haemophilia.org.uk/home.html 

 

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Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
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