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