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 arteries and/or 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 usually 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
75 Maiden Lane
Suite 603
New York, NY 10038
USA
Tel: (212)668-1000
Fax: (212)483-8179
Tel: (800)465-4837
Email: info@liverfoundation.org
Internet: http://www.liverfoundation.org

NIH/National Heart, Lung and Blood Institute
31 Center Drive MSC 2480
Building 31A Rm 4A16
Bethesda, MD 20892-2480
Tel: (301)592-8573
Fax: (240)629-3246
Email: nhlbiinfo@rover.nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

National Alliance for Thrombosis and Thrombophilia
120 White Plains Road
Suite 100
Tarrytown, NY 10591
Tel: (914)220-5040
Tel: (877)466-2568
Email: info@stoptheclot.org
Internet: http://stoptheclot.org/index.htm

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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