Health Encyclopedia

Congenital antithrombin III deficiency

Definition

Antithrombin III deficiency is a genetic disorder that causes the blood to clot abnormally.

Alternative Names

Deficiency - antithrombin III - congenital; Antithrombin III deficiency - congenital

Causes, incidence, and risk factors

Antithrombin III is a protein in the blood that blocks blood clots from forming. Congenital antithrombin III deficiency is a genetic disease. It occurs when a person receives one abnormal copy of a gene from a parent with the disease.

The abnormal gene leads to low levels of antithrombin III. These low levels of antithrombin III can cause abnormal blood clots (thrombi) that may damage organs.

Review Date:4/27/2007
Reviewed By:Rita Nanda, M.D., Department of Medicine, Section of Hematology/Oncology, University of Chicago Medical Center, Chicago, IL. Review provided by VeriMed Healthcare Network.

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