Detection of the JAK2 V617F mutation in polycythemia vera

Abstract

Background: Polycythemia vera is a chronic myeloproliferative disorder characterized by uncontrolled division of stem cells of the myeloid lineage, including erythroid lineage. In WHO criteria 2008 suggested the use of JAK2 V617F mutation in one of the three major criteria for the diagnosis of polycythemia vera. Currently, in our country, there is no research studies that JAK2 V617F mutation detection in Polycythemia vera. Aim: To detect JAK2 V617F mutation in who suspected polycythemia vera. And measure CDC parameters and clinical presentation of JAK2 617F mutation positive participants. Materials and Methods: The study was approved by the Research Ethics Committee of MNUMS on February 24, 2022 (February 24, 2022 No. 2022/3-02). In this cross-sectional study, between March, 2022 to September, 2022, who suspected polycythemia vera and attended the First Central Hospital and the Hematology department of the MJH of MNUMS were included. We conducted the statical analysis using SPSS 26.0 software. Results: There were 30 participants in the study, 14 (46.7%) were male and 16 (53.3%) were female, the average age was 57.7±11.6 years. The JAK2 V617F mutation was detected in 28 (93.3%) of participants. Conclusions: 1. JAK2 V617F gene mutation was identified in 93.3% (28/30) of 30 suspected polycythemia vera. 2. JAK2 V617F mutation positive cases met the CDC diagnostic criteria for polycythemia vera. It has been determined that JAK2 V617F mutation positive participants have a high rate of fatigue, itchy skin, headache, numbness, and loss of concentration.