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Antithrombin Deficiency

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Antithrombin 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

  • AT 3
  • AT III deficiency
  • thrombophilia, hereditary, due to AT III

Disorder Subdivisions

  • antithrombin III deficiency, classical (type I)
  • AT III variant IA
  • AT III variant IB

General Discussion

Antithrombin deficiency is a blood disorder characterized by the tendency to form clots in the veins (thrombosis). An inherited tendency to thrombosis is known as thrombophilia. Antithrombin is a substance in the blood that limits the blood's ability to clot (coagulation). In people with congenital antithrombin deficiency, there is a reduced amount of this substance in the blood due to a genetic abnormality. Antithrombin deficiency may also be acquired; in such cases, the disorder may be reversible with treatment.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



American Liver Foundation

39 Broadway, Suite 2700

New York, NY 10006

USA

Fax: (212)483-8179

Tel: (800)465-4837

Email: http://www.liverfoundation.org/contact/

Internet: http://www.liverfoundation.org



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/



Vascular Disease Foundation

1075 S. Yukon Street

Suite 320

Lakewood, CO 80226

Tel: (303)989-0500

Fax: (303)989-0200

Tel: (888)833-4463

Email: info@vdf.org

Internet: http://www.vdf.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/



National Blood Clot Alliance

120 White Plains Road

Suite 100

Tarrytown, NY 10591

Tel: (914)220-5040

Tel: (877)466-2568

Email: info@stoptheclot.org

Internet: http://www.stoptheclot.org/index.htm



Venous Disease Coalition

1075 S. Yukon Street, Suite 320

Suite 320

Lakewood, CO 80226

Tel: (303)989-0500

Fax: (303)989-0200

Tel: (888)833-4463

Email: info@venousdiseasecoalition.org

Internet: http://www.venousdiseasecoalition.org



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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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:  8/2/2012

Copyright  1986, 1987, 1990, 1992, 1993, 1996, 2000, 2001, 2002, 2006, 2007, 2009, 2012 National Organization for Rare Disorders, Inc.

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