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Prothrombin gene mutation q20210A
Last reviewed: 04.07.2025
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Prothrombin, or factor II, is converted into an active form by factors X and Xa, which activates the formation of fibrin from fibrinogen. This mutation is believed to account for 10–15% of inherited thrombophilias, but occurs in approximately 1–9% of mutations without thrombophilia. Among patients with deep thrombosis, prothrombin mutation is found in 6–7%. Like other inherited thrombophilias, this mutation is characterized by venous thrombosis of various localizations, the risk of which increases hundreds of times during pregnancy.
The diagnosis of prothrombin gene mutation is carried out by the PCR method. Very recently, data on the frequent combination of prothrombin gene mutation and factor V were published. The combination of these factors is characterized by very early thromboses - at the age of 20-25 years - with an increase in thromboembolic complications during pregnancy and after childbirth.
The management and treatment of patients with prothrombin defect is the same as that of patients with factor V mutation.
What tests are needed?