Antithrombin III deficiency - congenital
Key points
- 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; 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.
Written and revised by
Andrey Nailor, M.D.
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