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Factor XII Deficiency

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Factor XII 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

  • F12 deficiency
  • HAF deficiency
  • Hageman factor deficiency
  • Hageman trait

Disorder Subdivisions

  • None

General Discussion

Summary
Factor XII deficiency is a rare genetic blood disorder that causes prolonged clotting (coagulation) of blood in a test tube without the presence of prolonged clinical bleeding tendencies. It is caused by a deficiency of the factor XII (Hageman factor), a plasma protein (glycoprotein). Specifically, factor XII is a clotting factor. Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood clumps together to plug the site of a wound to stop bleeding. Although it is thought that factor XII is needed for proper blood clotting, when it is deficient, other blood clotting factors appear to compensate for its absence. Therefore, the disorder is thought to be benign and usually presents no symptoms (asymptomatic); it is usually only accidentally discovered through pre-operative blood tests that are required by hospitals.

Introduction
Factor XII deficiency was first described in the medical literature in 1955 by doctors Oscar Ratnoff and Jane Colopy in a patient named John Hageman. The disorder is sometimes known as Hageman factor deficiency or Hageman trait.

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

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/

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:  5/25/2012
Copyright  1988, 1989, 2002, 2008, 2012 National Organization for Rare Disorders, Inc.

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