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Vol. 25, Art. 31 (pp. 582-595)    |    2024       

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Diagnosis of prothrombotic conditions in patients with hereditary deficiencies of blood clotting factors

Komissarov K. A.1,2, Soldatenkova O.V.1, Burakov V. V.1, Bessmeltsev S. S.1, Smirnova O. A. 1, Gert T. N. 1, Soldatenkov V.E.1

1 - Russian research Institute of Hematology and Transfusiology of the Federal Medical and Biological Agency, St. Petersburg
2 - St. Petersburg State Pediatric Medical University, St. Petersburg

Brief summary

Currently, the problem of thrombosis and the influence of thrombophilic markers on the clinical course of hemophilia in patients is highly relevant. Fragmented and contradictory data in the global literature require a more detailed study of the influence of thrombophilic markers on the course of hemophilia and a thorough analysis of the risk factors for prothrombotic conditions in these patients with the aim of individualized monitoring and treatment of hemophilia. Objective. To study and evaluate the state of the hemostatic system in patients with inherited deficiencies of blood coagulation factors. Materials and methods. A study was conducted to assess the state of the hemostatic system in 106 patients with inherited deficiencies of blood coagulation factors who were examined and treated in the clinical department of surgical hematology from 2022 to 2024. Of these, 89 patients (83.96%) had hemophilia A, and 17 patients (16.04%) had hemophilia B. Results. Prothrombotic markers were identified in 33.02% of patients. The FV Leiden mutation was detected in 18.6% of cases. The mutation in the prothrombin gene G20210A was found in 2.33%. Antiphospholipid antibodies were present in 11.63%, and hyperhomocysteinemia was observed in 37.21% of patients. Antithrombin deficiency was identified in 18.6% of patients, protein C deficiency in 6.98%, and protein S deficiency in 2 patients (4.65%). Thus, the most commonly encountered markers were hyperhomocysteinemia, the FV Leiden mutation, and antithrombin deficiency. Conclusion. Diagnosis of the risk of prothrombotic conditions is a necessary condition that allows individual hemostatic therapy to be carried out, the most accurate assessment of the risks of surgical interventions and the provision of the most effective treatment for individual patients with hemophilia.


Key words

hemophilia, hemostasis, blood coagulation, thrombophilia, hemophilic arthropathy, hypocoagulation, blood coagulation factors, hypercoagulation.

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