Antithrombin III deficiency - congenital

Alternative names
Deficiency - antithrombin III - congenital; Congenital antithrombin III deficiency

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.

Johns Hopkins patient information

Last revised: December 3, 2012
by Levon Ter-Markosyan, D.M.D.

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