Full Text
Abstract
Introduction. Mutations in genes of factors II (G20210A) and V (G1691A) are well known determinants of hereditary thrombo- philia, but their presence, especially in the heterozygous form, does not always lead to the development of thrombotic com- plications. This indicates the importance of objective methods for the detection of prothrombotic phenotype in carriers of these mutations. Thrombin generation test (TGT) demonstrates the state of individual’s hemostasis in the interaction of pro- coagulant and anticoagulant mechanisms and allows to detect the hypercoagulability.
Aim: to assess the hemostatic potential in asymptomatic carriers of FV G1691A or/and FII G20210A mutations by TGT.
Materials and methods. We examined 42 asymptomatic carriers of FV G1691A mutation and/or G20210A prothrombin gene mutation (14 men and 28 women, average age — 37,0 ± 15,0 years). TGT was performed in platelet-poor plasma. In thrombino- gram we assessed following parameters: PT (Peak thrombin is the maximum amount of thrombin formed in the sample), ETP (endogenous thrombin potential), Lag-time (coagulation initiation time) and V (thrombin generation rate).
Results. According to data obtained, heterozygous carriage of FV G1691A and/or FII G20210A mutations can be associated with both prothrombotic and normal phenotypes. In asymptomatic carriers of Leiden mutation we revealed elevated values of ETP and RT in 44% of cases, while resistance to activated protein C — in 67%. The majority of FII G20210A mutation carriers demonstrated increased values of ETP and PT (71% and 57%, respectively). Thrombin generation rate exceeded normal values in 57% and 64% carriers of FV G1691A and FII G20210A mutations, respectively. The majority of examined patients can be characterized as having intermediate prothrombotic phenotype, taking into account that they had both normal and pathological values of TGT parameters.
Conclusion. TGT is a perspective method for creating an individual risk profile in asymptomatic carriers of mutations associated with hereditary thrombophilia.
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