Abstract Number: VPB1169
Meeting: ISTH 2022 Congress
Theme: Hemophilia and Rare Bleeding Disorders » Hemophilia - Clinical
Background: The role of prothrombotic markers in patients with hemophilia is still unclear. On the one hand, procoagulatory changes may have protective effect on the clinical course. On the other hand, novel therapy approaches and high-dose perioperative factor prophylaxis may be complicated by thrombosis. So all the risk factors should be considered before the drug prescription.
Aims: To study the incidence of genetic thrombophilia markers (FV Leiden, MTHFR) in patients with hemophilia A and B and compare it to the average for population in the North-Western region of Russia.
Methods: 98 case-records of patients with hemophilia A (85 patients) and B (13 patients), who underwent treatment in Russian Scientific Research Institute of Hematology and Transfusiology in 2020-2021, were studied. The results of molecular genetics testing for thrombophilic mutations were analyzed.
Results: 1) The incidence of heterozygous FV Leiden mutation in the studied group comprised 4,08%. The difference between this value and the average for the population (4,4%) was not statistically significant.
2) The difference between incidences of the heterozygous FV Leiden mutation in patients with hemophilia A and B was not statistically significant.
3) The incidence of heterozygous MTHFR gene mutation comprised 51,22%, which exceeds the average for the population (39,5%). But the further statistical analysis showed that the difference was not statistically significant.
4) The incidence of homozygous MTHFR gene mutation comprised 8,54%. The difference between this value and the average for the population (10,1%) was not statistically significant.
Conclusion(s): The incidence of FV Leiden and MTHFR mutation in hemophiliacs of the North-Western region of Russia does not statistically significant differ from the average population which means similar risks in terms of the correction of coagulation defect. The study will be proceeded to estimate other prothrombotic markers and their impact on clinical course.
To cite this abstract in AMA style:
Soldatenkov V, Soldatenkova O, Komissarov K, Burakov V, Saltykova N, Papayan L, Silina N, Kapustin S, Smirnova O, Titov A. The Incidence of FV Leiden and MTHFR Gene Mutations in Patients with Hemophilia A and B in the North-Western Region of Russia [abstract]. https://abstracts.isth.org/abstract/the-incidence-of-fv-leiden-and-mthfr-gene-mutations-in-patients-with-hemophilia-a-and-b-in-the-north-western-region-of-russia/. Accessed March 22, 2024.« Back to ISTH 2022 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/the-incidence-of-fv-leiden-and-mthfr-gene-mutations-in-patients-with-hemophilia-a-and-b-in-the-north-western-region-of-russia/