jak2 mutation, a potential cause of increasing hemoglobin levels in symptomatic aged women

Background: polycythemia vera (pv) is a myeloproliferative neoplasm (mpn) characterized by the overactivity of erythroid progenitors, leading to excessive red blood cell (rbc) production. more than 90% of pv cases harbor a janus kinase 2 (jak2) gene mutation. this study aimed to assess the prevalence of jak2 mutations in individuals with elevated hemoglobin (hb) levels referred to the laboratory by physicians.methods: in this descriptive cross-sectional study, genomic dna from 72 patients was analyzed for jak2 mutations using a taqman-specific probe. results: of the 72 patients, 24 (33.3%) were women and 48 (66.6%) were men. jak2 mutations were detected in 33 cases (45.5%), while 39 (54.2%) were negative. notably, 15 of 24 female patients (62.5%) tested positive for the jak2 mutation, compared to 18 of 48 male patients (37.5%). conclusion: our findings suggest that screening for jak2 mutations is particularly important in women with above-normal hb levels.