Aci Recai, Keskin Adem, Sezer Özlem, Karakaya Taner, Semiz Samet, Kızılet Halit
Söke Vocational School of Health Services, Aydın Adnan Menderes University, Aydın, Turkey.
Department of Medical Biochemistry, Faculty of Medicine, Aydın Adnan Menderes University, Aydın, Turkey.
Scand J Clin Lab Invest. 2025 May 8:1-4. doi: 10.1080/00365513.2025.2502945.
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.
真性红细胞增多症（PV）中的髓系细胞过度增殖是由一种克隆性疾病所导致。已知的Janus酪氨酸激酶2（JAK2）基因中的V617F突变已被证明是该疾病分子发展的原因。本研究调查了JAK2 V617F突变在PV患者中的发生频率及其与促红细胞生成素（EPO）和血液学参数的关系。本研究纳入了245名在遗传门诊预诊断为PV的患者。通过等位基因特异性聚合酶链反应（PCR）对所有患者的血样进行9号染色体上JAK2基因的G-T点突变（V617F）筛查。此外，分析了患者的EPO水平、生化和血液学参数。在诊断为PV的患者中，28.9%（71例）检测到JAK-2突变。JAK2 V617F阳性组的平均年龄为64.09±13.66岁，阴性组为66.62±16.60岁。两组在年龄和性别方面未发现统计学上的显著差异。分析实验室参数时，发现JAK2 V617F阳性组的铁蛋白、铁、平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）、平均红细胞血红蛋白浓度（MCHC）和EPO值低于阴性组，而红细胞（RBC）、红细胞分布宽度（RDW）、平均血小板体积（MPV）、血小板（PLT）、血红蛋白（HGB）和未饱和铁结合力（UIBC）值则较高。该研究的主要观察结果是，215例PV患者中有71例（28.98%）存在JAK2 V617F突变，证实了PV患者EPO水平较低的观察结果，且该研究结果与先前的研究密切一致。
