Analysis of JAK2V617F Tyrosine Kinase Mutation in Blood Donors with Erythrocytosis – A Pilot Study in a Tertiary Care Teaching Hospital of South India

PURPOSE: Transfusion services and blood centers provide immediate medical evaluation to blood donors by physical examination and hemoglobin (Hb) screening. Screening for Hb value before every blood donation is mainly aimed to rule out anemia. However, it is not uncommon to defer the donors for high Hb value which can be due to primary or secondary polycythemia. This study aimed to analyze the frequency of JAK2V617F mutation among blood donors with a high Hb of >18 g/dl. PATIENTS AND METHODS: A prospective study was conducted over a period of 18 months involving blood donors with a persistently high Hb value of >18 g/dl. Complete blood count (CBC), JAK2V617F gene mutation and Serum Erythropoietin (EPO) levels in study donors were analyzed. Descriptive statistical analysis was performed using SPSS, version 24 (IBM, USA). RESULTS: Of 13,798 screened donors, 48 donors (0.34%) had persistent erythrocytosis with a high Hb value of >18 g/dl. Their age ranged between 20–50 years with a mean of 31.2 ± 6.66. The CBC parameters including red blood cell (RBC) count, Hb%, hematocrit (Hct), white blood cell (WBC) count and the platelet count ranged from 4.35–8.43 million/µL (6.2 ± 0.6), 18.6–24.4 g/dl (19 ± 0.94), 51.9–83.3% (58 ± 5.02), 3.99–10.8 × 103/µL (7.8 ± 1.5), and 120–450 × 103/µL (227 ± 57.2), respectively. Estimated mean EPO value was 8.29 mIU/± 0.04. JAK2V617F mutation was detected in 2 donors (4.1%). CONCLUSION: The prevalence of persistent erythrocytosis among blood donors was 0.34% and among them, two donors (4.1%) harbored the JAK2V617F mutation. Thus, blood centers play an important role in the primary screening of donors with high hemoglobin leading to early detection and management of polycythemia vera (PV).