Factor XIII Deficiency

National Organization for Rare Disorders, Inc.

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Important
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.

Synonyms

  • congenital factor XIII deficiency
  • fibrin stabilizing factor deficiency
  • inherited factor XIII deficiency

Disorder Subdivisions

  • None

General Discussion

Summary
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.
Introduction
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.

Supporting Organizations

Canadian Hemophilia Society

400-1255 University Street
Quebec, H3B 3B6
Canada
Tel: 5148480503
Fax: 5148489661
Tel: 8006682686
Email: chs@hemophilia.ca
Website: http://www.hemophilia.ca

Children's Cancer & Blood Foundation

333 East 38th Street, Suite 830
New York, NY 10016-2745
Tel: (212)297-4336
Fax: (212)297-4340
Email: info@childrenscbf.org
Website: http://www.childrenscbf.org/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hemophilia Federation of America

210 7th St. SE
Suite 200B
Washington, DC 20003
USA
Tel: (202)675-6984
Fax: (202)675-6983
Tel: (800)230-9797
Email: info@hemophiliafed.org
Website: http://www.hemophiliafed.org

Irish Haemophilia Society

First Floor
Cathedral Court
Dublin, 7
Ireland
Tel: 353016579900
Fax: 353016579901
Email: info@haemophilia.ie
Website: http://www.haemophilia.ie/

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Website: http://www.nhlbi.nih.gov/

National Hemophilia Foundation

116 West 32nd Street, 11th Floor
New York, NY 10001
USA
Tel: (212)328-3700
Fax: (212)328-3777
Tel: (800)424-2634
Email: handi@hemophilia.org
Website: http://www.hemophilia.org

World Federation of Hemophilia

1425, boul. René-Lévesque O.
Bureau 1010
Montréal, Québec, H3G 1T7
Canada
Tel: +1 (514) 875-7944
Fax: +1 (514) 875-8916
Email: wfh@wfh.org
Website: http://www.wfh.org/en/page.aspx?pid=492

For a Complete Report

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 orphan@rarediseases.org

Last Updated:  1/10/1970
Copyright  2012 National Organization for Rare Disorders, Inc.