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It is possible that the main title of the report Factor XIII Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Factor XIII deficiency is a rare, genetic bleeding disorder characterized by deficiency of clotting factor XIII. Clotting factors are specialized proteins that are essential for the blood to clot properly. Specifically, individuals with factor XIII deficiency form blood clots like normal, but these clots are unstable and often break down, resulting in prolonged, uncontrolled bleeding episodes. Factor XIII also affects other processes in the body and is known to play a role in proper wound healing and pregnancy. The severity of factor XIII deficiency bleeds can vary greatly from one person to another. Some individuals may have only mild symptoms; other individuals may have severe, life-threatening bleeds. With early diagnosis and prompt treatment, the more serious bleeds of factor XIII deficiency can be avoided. FXIII consists of two subunits: subunit A and subunit B. Most of the Factor XIII deficiency states are caused by mutations in subunit A; very few have a mutation in subunit B. Factor XIII deficiency is inherited as an autosomal recessive disorder.
This report deals with the genetic form of factor XIII deficiency, which is present at birth (congenital); the disorder can also be acquired during life. Although the genetic form is present at birth, symptoms may not become apparent until later during life. Congenital factor XIII deficiency was first described in the medical literature by Duckert, et al., in 1960.
National Hemophilia Foundation
116 West 32nd Street, 11th Floor
New York, NY 10001
Canadian Hemophilia Society
400-1255 University Street
Quebec, H3B 3B6
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
World Federation of Hemophilia
1425 René Lévesque Blvd. W. Suite 1010
Quebec, H3G 1T7
Children's Cancer & Blood Foundation
333 East 38th Street, Suite 830
New York, NY 10016-2745
Hemophilia Federation of America
210 7th St. SE
Washington, DC 20003
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Irish Haemophilia Society
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 4/24/2012
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