Thrombotic and atherogenetic predisposition in polyglobulic donors

Abstract

This work analyses the results of research regarding the predisposition of genetic hematological risks associated with secondary polyglobulia. The subjects of the study were selected based on shared laboratory markers and basic clinical symptoms. JAK2 (Janus Kinase 2) mutation negativity represented the common genetic marker of the subjects in the sample of interest. A negative JAK2 mutation hypothetically excluded the presence of an autonomous myeloproliferative disease at the time of detection. The parameters studied in this work focused mainly on thrombotic, immunological, metabolic, and cardiovascular risks. The final goal of the work was to discover the most significant key markers for the diagnosis of high-risk patients and to exclude the less important or only complementary markers, which often represent a superfluous economic burden for healthcare institutions. These research results are applicable as a clinical guideline for the effective diagnosis of selected parameters that demonstrated high sensitivity and specificity. According to the results obtained in the present research, groups with a high incidence of mutations were evaluated as being at higher risk for polycythemia vera disease. It was not possible to clearly determine which of the patients examined had a higher risk of developing the disease as different combinations of mutations could manifest different symptoms of the disease. In general, the entire study group was at risk for manifestations of polycythemia vera disease without a clear diagnosis. The group with less than 20% incidence appeared to be clinically insignificant for polycythemia vera testing and thus there is a potential for saving money in mutation testing. On the other hand, the JAK V617F (somatic mutation of JAK2) parameter from this group should be investigated as it is a clear exclusion or confirmation of polycythemia vera as the primary disease.