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Congenital antithrombin III deficiency


Alternative names

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

Definition

Antithrombin III is a protein in the blood that blocks the formation of blood clots. Congenital antithrombin III deficiency is a genetic disease that occurs when a patient has received one abnormal copy of a gene from a parent with the disease (an autosomal dominant trait). The abnormal gene leads to low levels of antithrombin III. These low levels of antithrombin III can cause abnormal blood clots (thrombus) that may damage organs.

Update Date: 10/28/2003

Ezra E. W. Cohen, M.D., Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.

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