The frequency of JAK2 V617F mutation and its association with low EPO levels in polycythemia vera patients

Abstract

Myeloid cell overgrowth in polycythemia vera (PV) is identified by a clonal disorder. The mutation in the Janus tyrosine kinase 2 (JAK2) gene known as V617F has been demonstrated to be responsible for the molecular development of the illness. This study investigates how frequently the JAK2 V617F mutation occurs and its association with erythropoietin (EPO) and hematological parameters in PV patients. Two hundred and forty-five patients who presented to the genetic outpatient clinic with a prediagnosis of PV were included in this study. Blood samples from all patients were screened for the G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by allele-specific polymerase chain reaction (PCR). In addition, EPO levels, biochemical and hematological parameters of the patients were analyzed. JAK-2 mutation was detected in 28.9% (71) of patients diagnosed with PV. The mean age of the JAK2 V617F positive group was 64.09 ± 13.66 years, negative group was 66.62 ± 16.60 years. No statistically significant difference was found between the groups in terms of age and gender. When laboratory parameters were analyzed, ferritin, Fe, MCV, MCH, MCHC and EPO values were found to be lower in the JAK2 V617F positive group compared to the negative group, while RBC, RDW, MPV, PLT, HGB and UIBC values were found to be higher. The main observation of the study was that the JAK2 V617F mutation was present in 71 out of 215 PV patients (28.98%), confirming the observation of lower EPO levels in PV patients, and the results of the study are in close agreement with previous studies.

Keywords: JAK2 V617F mutation; erythropoietin; hematological parameters; myeloid cell; polycythemia vera.