The Frequency Of JAK2 V617F Gen Mutation And Its Associations With Whole Blood Count Parameters

Abstract

Objective: V617F mutation of Janus kinase (JAK2) gene is used in the diagnosis of BCR-ABL negative myeloproliferative diseases such as polycytemia vera, essential thrombocythemia and primary myelofibrosis. In this study, we evaluated the frequency of JAK2 V617F mutation in a group of Turkish individuals and its association with whole blood count parameters. Methods: We retrospectively reviewed the records of 201 patients (174 males and 27 females) who were tested for JAK2 V617F mutation from January 2012 to December 2012. JAK2V617F mutation, BCR-ABL mutation, level of white blood cell count (WBC), red blood cell count (RBC), platelet count (PLT), red blood cell distribution width (RDW), hemoglobin (Hb), hematocrit (Hct), level of iron, iron binding capacity and demographic data of patients were also noted. A commercial kit assay for the identification of V617F mutation based on real time-polymerase chain reaction had been used to investigate mutation of the JAK2 gene. Results: 14.9 % of the 201 samples being investigated for JAK2 V617F mutation were positive. Patients who were ordered for JAK2 V617F mutation testing were divided into two groups according to mutation being positive and negative. Age, RDW and PLT levels were significantly higher in mutation positive group (p<0.05). Besides JAK2 V617F mutation, BCR-ABL mutation orders were examined and BCR-ABL mutation reports were also evaluated on subjects. Age, RDW and PLT were significantly higher in JAK2 V617F mutation positive / BCR-ABL mutation negative group (p<0.05). Conclusion: In this study significant differences for age, RDW and platelet count were determined in mutation positive subjects. Findings of this study suggest that JAK2 V617F mutation could cause proliferation of megakaryocytic cells as well as erythroid cells and as a result of disturbance in erythroid maturation process, the proliferation in the erythroid cells could cause an increase in RDW.