Genetic Polymorphisms of coagulation factors and platelet glycoproteins in patients with chronic myeloproliferative neoplasms

Abstract

Thrombotic and hemorrhagic complications are a frequent event and the main cause of death of patients with chronic myeloproliferative neoplasms (MPN). The somatic mutations in the genes JAK2, MPL, CALR are determining the pathogenesis of MPN and associated with individual phenotypic manifestations of the disease: polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). Recent studies have also demonstrated the role of integrin and collagen receptors in regulating the proliferative activity of proplatelet and the formation of bone marrow fibrosis. The role of polymorphisms of hereditary thrombophilia in the pathogenesis of MPN has not been extensively studied. The aim of the study was to determine the prognostic significance of carriage of genetic polymorphisms of platelet receptors on the development of some variants of MPN.