JAK2 Mutation and Its Assessment in Relation to Profile of Young Polycythemia Patients in India

Abstract Purpose The main aim of this study was to detect the presence JAK2 mutation and its assessment in relation clinical, hematological, mutational profile young patients with established polycythemia. Methods Cross-sectional observational undertaken over a period 1 year tertiary care center. Sixty were included our between age 18 50 years confirmed diagnosis polycythemia vera. Reports all investigations including bone marrow biopsy testing assessed. Results Presence V617F found 38% patients, while panmyelosis present 67% patients. Higher mean hemoglobin levels observed mutation-positive compared those who negative. Thrombosis-related complications five whom positive, out requiring phlebotomy, 15 positive. Conclusion Indian population is seen significantly less cases as Western data, frequently thus significant finding for diagnosing setting. Median greater so phlebotomy requirements thrombotic events occurrences. Forty-two percent had history some exposure high-altitude areas adhering fact that high altitude an risk factor developing same reinforced by study.