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Fibrinogen, Molecular Detection of G455A Polymorphism

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Molecular screening for the fibrinogen B gene promoter polymorphism is performed to assess the risk of thrombosis in asymptomatic patients with a severe family history or in patients who have already experienced a thromboembolic episode.

Fibrinogen (coagulation factor I) is a glycoprotein, synthesized by the liver, which participates in the coagulation cascade. Fibrinogen is converted to fibrin in the presence of thrombin. Elevated levels of fibrinogen have been associated with an increased risk for atherosclerosis, deep vein thrombosis as well as cardiovascular disease. Fibrinogen consists of three pairs of polypeptide chains (called α, β and γ chains) that are linked by disulfide bonds. These three chains are encoded by three different genes (α, β and γ fibrinogen genes, respectively) located on chromosome 4. A frequent polymorphism at position 455 in the region of the fibrinogen β gene promoter (G455A, adenine) has been associated with elevated fibrinogen levels (for AA mice).

Thrombophilia is an acquired or congenital disorder associated with thrombosis. The clinical appearance of an underlying thrombophilia mainly involves venous thromboembolism, which is manifested as deep vein thrombosis, pulmonary embolism, or superficial vein thrombosis. Other events associated with thrombophilia include prolonged (recurrent) miscarriages and complications of pregnancy such as severe preeclampsia, placental abruption, and fetal endometrial death. The demographic and environmental characteristics that contribute to the risk of venous thromboembolism in people predisposed to thrombophilia include: old age, gender (more commonly in men), obesity, surgery, trauma, hospitalization, etc. malignant neoplasms, prolonged immobility (such as long plane trips), use of certain medications (such as contraceptives, estrogens, tamoxifen and raloxifene) and certain medicines used to equalize low blood glucose levels in hypoglycemia.




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