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Information × Registration Number 0224U033416, (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 Дослідити поліморфізм генів ФV Лейдена (FV:R506Q), ФІІ (FII:G20210A), MTHFR C677T, активність фізіологічних антикоагулянтів (АТ ІІІ, протеїн С, протеїн S) та фактори судинно-тромбоцитарної ланки гемостазу у хворих на гемофілію А та В Head Stasyshyn Oleksandra V., Доктор медичних наук Registration Date 27-12-2024 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 42 hemophilia A and B patients (male) in the age of 6 to 60 years, who were examined and treated at the State Institute of Blood Pathology and Transfusion Medicine of the UNAMS. The purpose of the work is to determine the genetic, coagulological and clinical features of disorders in patients with hemophilia to assess the severity of the phenotype in order to predict the effectiveness and safety of treatment. Research methods - clinical, genetic, coagulological, statistical. Hemophilia patients have a statistically significant difference in APTT (I APTT) and activity of FVIII/IX between groups and controls. The significant difference in the activity of functional tests of physiological anticoagulants of PC and PS between groups of patients with hemophilia and the control group was not detected. The activity of AT III in all examined patients was within normal limits. In patients with mild hemophilia, AT III levels were significantly higher than in patients with severe and moderate disease. Among patients with moderate form heterozygous FV Leiden (FV: R506Q) mutation is established in 1 person (9.1 %). In 1 patient with mild hemophilia (15.7 %), the G/A polymorphism was found in the FV Leiden gene. FII-prorombin mutations (FII: G20210A) have not been detected in examined patients. The frequency of combination with congenital factors of VIII/IX factors is expected low since thrombophilic mutations in the general population occur with a relatively low frequency (mutations F5: R506Q in 3-5 %, FII: G20210A in 1-4 % of the European population). To obtain reliable results, it is necessary to increase the sampling of patients and to compare the obtained data with clinical manifestations. To obtain reliable results, it is necessary to increase the sampling of patients and to compare the obtained data with clinical manifestations. Product Description popup.authors Voroniak Myroslav I. Dzis Roman P. Krasivska Valeriia V. Tushnytskyi Orest M. popup.nrat_date 2024-12-27 Close