Congenital antithrombin III deficiency

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Venous blood clot

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.

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

Review Date: 07/29/2005
Reviewed By: William Matsui, M.D., Assistant Professor of Oncology, Division of Hematologic Malignancies, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD. Review provided by VeriMed Healthcare Network.