eng Science and Education Publishing American Journal of Medical Sciences and Medicine 2327-6657 2023-12-27 11 4 102 105 10.12691/ajmsm-11-4-2 AJMSM20231142 article I.V. Berger innaberger@mail.ru 1 A.D. Makhmudova 1 A.A. Kayumov 1 M.O. Omonov 1 Republican Specialized Scientific and Practical Medical Center of Hematology, Tashkent, Uzbekistan Introduction. The danger of thrombosis for humans has become widely known since the mid-nineteenth century, and the list of diseases whose pathogenesis involves the formation of blood clots includes most of the known nosological forms today. The purpose of the work was to study the frequency of occurrence and allelic load of mutations in thrombophilia genes in patients with chronic myeloproliferative diseases. Materials and methods. 50 patients with chronic myelopolyferative diseases (CMPD), age less than 50 years and episodes of thrombosis were examined in the inpatient conditions of the Russian National Research Medical Center for Hematology. Conclusions: The high frequency of mutations of thrombophilia genes in patients with CM§²D indicates the possible participation of genes of a hereditary nature in the development of thrombosis and the outcome of the underlying disease. https://pubs.sciepub.com/ajmsm/11/4/2/ajmsm-11-4-2.pdf thrombophilia genetic testing myeloproliferative diseases polycythemia vera essential thrombocytosis myelofibrosis