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.

Alternative Names

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