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Factor V - Molecular Detection of H1299R Mutation

Molecular screening of the coagulation factor V gene A4070G is performed to assess the risk of thrombosis in asymptomatic patients with a family history of obesity or in patients who have already experienced a thromboembolic episode.

Coagulation factor V is an enzymatic cofactor that participates in the coagulation "cascade" process and contributes to normal hemostatic balance. Mutations in the factor V gene are among the causes of venous thrombosis. Other conditions associated with mutations in factor V genes are pregnancy complications, such as miscarriages. The most common mutation in the factor V gene is the Leiden mutation. Recently, another polymorphism in factor V gene, A4070G polymorphism, namely the change of Adenine from Guanine to nucleotide 4070 which results in the change of the amino acid Histidine to Arginine at position 1299 of the protein (His1299R / g) and is associated with hereditary thrombophilia.

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, malignant neoplasms, prolonged immobility (such as long plane trips), use of certain medications (such as contraceptives, estrogens, tamoxifen and raloxifene) and certain drugs used to treat hypoglycemia equality.



Important Note

Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. Correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".

Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.

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