Zeinab Siahmargoie, Mohammad Taher Hojjati, Hadi Bazzazi, Khodaberdi Kalavi, Mana Zakeri, Hadi Joshaghani,
Volume 19, Issue 1 (4-2025)
Abstract
Background: Polycythemia Vera (PCV) is a type of myeloproliferative neoplasm (MPN) in which the progenitors of the erythroid lineage become overactive and produce large amounts of red blood cells (RBCs). More than 90% of people with PCV have a Janus kinase 2 (JAK2) gene mutation. In this study, we examined the status of possible JAK2 gene mutations in people with higher-than-normal hemoglobin (Hb) levels that physicians introduced to the laboratory.
Methods: In this descriptive cross-sectional study, JAK2 alleles were tested for possible JAK2 mutations in genomic DNA of 72 cases using a TaqMan-specific probe.
Results: Out of 72 patients, 24 were women (33.3%) and 48 (66.6%) were men, among them 39 (54.2%) were negative and 33 cases (45.5%) were positive for JAK2 mutation. The data also showed that 15 out of 24 female patients (62.5%) had positive JAK2 mutation, while in the male patients, 18 out of 48 (37.5%) were positive for JAK2 mutation.
Conclusion: According to our research, investigation of the Jak2 mutation, especially in women who had Hb levels upper than normal, seems to be necessary.
