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Information × Registration Number 0226U001682, (0123U103321) , R & D reports Title To study the influence of genetic factors of thrombophilia on the clinical phenotype and effectiveness of treatment in patients with hemophilia popup.stage_title Розробити клінічні та лабораторні критерії оцінки фенотипу, оцінити ефективність профілактичного лікування факторними та нефакторними препаратами у хворих на гемофілію залежно від наявності генетичних та негенетичних факторів тромбофілії Head Stasyshyn Oleksandra V., Доктор медичних наук Registration Date 29-01-2026 Organization State institution "Institute of blood pathology and transfusion medicine of Nataional Academy of Medical scinces of Ukraine" popup.description1 Determination of genetic and environmental factors and their interactions on the phenotype of severe haemophilia in order to predict the effectiveness and safety of treatment popup.description2 The object of the study is 83 patients (males) with hemophilia A and B aged 6 to 60 years, who were examined and treated at the SI IBPTMNAMS of Ukraine. The methods of the study are clinical, genetic, coagulological, statistical. In patients with hemophilia, a statistically significant difference in APTT (IAPTT) and activity of FVIII/IX between the groups and with the control was established which is associated with the disease itself. A significant difference was found in the tests of physiological anticoagulants PC and PS in patients with severe hemophilia A and B compared to the control group. The frequency of the FII–prothrombin mutation (FII:G20210A) among all examined 83 patients with hemophilia is 6.0% (5 patients). heterozygous carrier of the FV:R506Q mutation was detected in 2 (2.4%) patients. Homozygous T/T in the MTHFR C677T gene was detected in 6 (7.2%) patients with hemophilia and homozygous C/C in the MTHFR A1298C gene was revealed in 6 (7.2%). 53 (65.8%) haemophilia were heterozygous carrier of MTHFR C677T and 45 (54.2%) patients were heterozygous carrier of MTHFR A1298C. According to the results of the study, mutations FII:G20210A, FV:R506Q and folate cycle genes MTHFR A1298C and MTHFR C677T were detected in 22.8% of cases (19 patients), of which 6 (14.6%) patients with severe disease, 9 (36.0%) patients with moderate hemophilia, and 4 (23.5%) individuals with mild disease. According to the results of the assessment of patients with severe hemophilia A and B with and without genetic markers of thrombophilia (mutation of genes FII:G20210A, FV:R506Q and homozygous carriership of MTHFR C677T, MTHFR A1298C), the annual bleeding index (ABR) was > 10, the annual index of hemarthrosis (АjBR) > 3, the annual index of spontaneous bleeding (АsBR) > 5, which indicates a severe clinical phenotype in patients of both groups. We did not find a dependence of the severity of the clinical phenotype on the presence of genetic markers of thrombophilia. Product Description popup.authors Orest M. Tushnytskyi Valeriia V. Krasivska Roman P. Dzis popup.nrat_date 2026-01-29 Close