Congenital antithrombin III deficiency

Information, Symptoms, Treatments and Resources

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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.

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Review date: April 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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