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Factor XI Deficiency
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· Resources
and More
Description
Factor XI Deficiency is a rare autosomal
recessive disease, which causes Hemophelia 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
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Protracted bleeding after childbirth
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Persistent bleeding after surgery or injury
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Heavy menstrual bleeding
Incidence and Carriers
Disease Frequency: 1 in 190
Ashkenazi Jews, 1 in 1,000,000 worldwide.
Carrier Frequency: 1 in 8 to 1 in 10 in 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.
Resources and More
National Hemophilia Foundation
116 West 32nd Street
11th Floor
New York, NY 10001
(212) 328-3700
fax: 212-328-3777
HANDI phone: (800) 42-HANDI
HANDI fax: (212) 328-3799
http://www.hemophilia.org/home.htm
The Haemophilia Society
Chesterfield House
385 Euston Road
LONDONNW1 3AU
free phone helpline: 0800 018 6068
administration: + 44 20 7380 0600
fax: +44 20 7387 8220
email: info@haemophilia.org.uk
http://www.haemophilia.org.uk/home.html
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