Background: The role of the most important prothrombotic genetic risk factors, such as FV Leiden mutation or Prothrombine G20210A mutation, is obvious. Nowadays it is necessary to proceed searching for additional factors of hereditary thrombophilia.
Aims: To study laboratory characteristics of patients with verified thrombosis and different forms of hereditary thrombophilia and to evaluate some additional prothrombotic markers.
Methods: 101 case-records of patients, who underwent treatment in Russian Scientific Research Institute of Hematology and Transfusiology in 2017-2021, were studied. Inclusion criteria: verified arterial or venous thrombosis and confirmed hereditary thrombophilia. Exclusion criteria: JAK2, CALR, MPL mutations. The following groups of patients were formed on the base of the molecular genetics and coagulation tests: I – isolated FV Leiden mutation (n=16), II – isolated mutation in Prothrombine G20210A (n=8), III – isolated antithrombine deficiency (n=2), IV – isolated Protein C deficiency (n=1), V – isolated FVIII elevation (n=10), VI – isolated hyperhomocysteinemia (MTHFR, MTRR mutations, confirmed phenotypically) (n=8), VII – isolated primary antiphospholipid syndrome (n=4), VIII – combination of three and more thrombophilia markers (n=3), IX – combination of two strong thrombophilia markers (n=4), X – strong and moderate thrombophilia markers combination (n=45). Clinical and laboratory data of those groups were analyzed.
Results: 1. 158 strong or moderate thrombophilia markers were found. The most common was hyperhomocysteinemia (30.4%).
2. Combined thrombophilias were found in 51.48%. Combination of Leiden mutation with hyperhomocysteinemia was the most common combined thrombophilia (34.6%).
3. Venous thrombosis was found in 74.2%, arterial – in 15.8%, combined – in 10% of patients.
4. Mutation of FI gene was found in 36,6% of patients. 54% of them had confirmed hyperfibrinogenemia.
5. Incidence of B (III) blood group was 2,56 times higher than in average population.
6. Incidence of Rh-negative blood type was 1,3 times higher.
Conclusions: Mutation in FI gene, blood types B (III) and Rh-negative may be considered as an additional prothrombotic markers.
To cite this abstract in AMA style:
Soldatenkov V, Soldatenkova O, Mineeva N, Kapustin S, Papayan L, Silina N, Chechetkin A, Komissarov K. Additional Risk Factors of Hereditary Thrombophilia in the North-Western Region of Russia [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/additional-risk-factors-of-hereditary-thrombophilia-in-the-north-western-region-of-russia/. Accessed March 22, 2024.« Back to ISTH 2021 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/additional-risk-factors-of-hereditary-thrombophilia-in-the-north-western-region-of-russia/