Objective: To determine the frequency of Janus associated kinase 2 ( JAK2) mutation in patients of polycythemia vera (PV).
Study design: Descriptive cross-sectional.
Place and duration of study: Haematology Department, Armed Forces Institute of Pathology (AFIP), Rawalpindi, from January 2008 to December 2009.
Methodology: Forty-six consecutive patients of PV diagnosed by the conventional haematological criteria were included in the study. Blood samples of all patients were screened for G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by an allele specific polymerase chain reaction (PCR).
Results: JAK2 V617F mutation was found in 43 out of 46 patients (93.5%) with PV. Among them, 30 were males (65.2%) and 16 were females (34.8%). Mean TLC in patients with PV was 16.5 ± 9.1 x 109/L, mean haemoglobin (Hb) was 17.8 ± 2.0 g/dl, mean platelet count was 531 ± 261 x 109/L, mean PCV was 57.9 ± 6.3 l/l, mean MCV was 78.8 ± 11.0 fl and mean MCH was 24.4 ± 4.8 pg.
Conclusion: Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial work up of patients suspected to have polycythemia as this mutation is present in majority of such patients.