POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS

• Published in: Sibirskiĭ nauchnyĭ medit︠s︡inskiĭ zhurnal Vol. 39; no. 1; pp. 106 - 111
• Main Authors: T. Yu. Polyanskaya, I. S. Fevraleva, E. E. Karpov, N. V. Sadykova, M. S. Sampiev, A. V. Golobokov, G. V. Mishin, D. Yu. Petrovskiy, A. A. Koroleva, G. M. Galstyan, A. B. Sudarikov, V. Yu. Zorenko
• Format: Journal Article
• Language: English; Russian
• Published: Russian Academy of Sciences, Siberian Branch Publishing House 2019
• Subjects: hemophilia; hemophilia phenotypes; thrombophilia gene polymorphism
• ISSN: 2410-2512; 2410-2520
• DOI: 10.15372/SSMJ20190115

Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population.