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Factor XIII Deficiency

National Organization for Rare Disorders, Inc.

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
  • inherited factor XIII deficiency
  • fibrin stabilizing factor 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.

Resources

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

Internet: http://www.hemophilia.org



Canadian Hemophilia Society

400-1255 University Street

Montreal

Quebec, H3B 3B6

Canada

Tel: 5148480503

Fax: 5148489661

Tel: 8006682686

Email: chs@hemophilia.ca

Internet: http://www.hemophilia.ca



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

Internet: http://www.nhlbi.nih.gov/



World Federation of Hemophilia

1425 René Lévesque Blvd. W. Suite 1010

Montreal

Quebec, H3G 1T7

Canada

Tel: 5148757944

Fax: 5148758916

Email: wfh@wfh.org

Internet: http://www.wfh.org/index.asp?lang=EN



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

Internet: http://www.childrenscbf.org/



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

Internet: http://www.hemophiliafed.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

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Irish Haemophilia Society

First Floor

Cathedral Court

New Street

Dublin, 7

Ireland

Tel: 353016579900

Fax: 353016579901

Email: info@haemophilia.ie

Internet: http://www.haemophilia.ie/



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:  4/24/2012

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