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Antithrombin deficiency, congenital



Antithrombin deficiency, congenital Definition


Antithrombin is a small protein molecule, which is responsible for inactivating several enzymes of the coagulation system. It consists of 432 amino acids and contains 3 disulfide bonds as well as 4 possible “glycosylation” sites. The role of antithrombin in regulating normal blood coagulation is demonstrated by the relationship between acquired and inherited antithrombin deficiencies. This relationship is also seen in the increased risk of developing thrombotic disease. Antithrombin deficiency usually appears to patient with recurrent pulmonary embolism and venous thrombosis.


Antithrombin deficiency, congenital Types


Acquired antithrombin deficiency is a disorder resulting from various disorders, including sepsis, liver dysfunction, premature birth, kidney disease and nephritic syndrome. It could also be the result of interventions like cardiopulmonary bypass and any major surgery. Inherited Antithrombin deficiency occurs due to low circulating levels of functionally and structurally normal antithrombin. When this happens, the activity of normal antithrombin is reduced up to 50%. This type of Antithrombin deficiency is classified as “type I Antithrombin deficiency”. Inherited Antithrombin deficiency may also be classified as “type II Antithrombin deficiency” when a functionally and structurally abnormal antithrombin protein circulates the blood. When this happens, levels of antithrombin could be normal, but the activity produced is reduced to 50%. Both type I and type II congenital Antithrombin deficiency has been shown to be the result of any nonsense mutations, missense mutations or frameshift mutations in genes that encode antithrombin.


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