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Antithrombin Deficiency

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Kenneth A. Bauer, MD, Professor of Medicine, Harvard Medical School, for assistance in the preparation of this report.

Synonyms of Antithrombin Deficiency

  • 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.

Organizations related to Antithrombin Deficiency

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