Evaluation of Jak2 exon 12 mutation in patients with polycythemia vera

Background: Polycythemia vera (PV) increases the red blood cells' production. Jak2 Exon 12 mutation as a new molecular test can be helpful for diagnosing of PV patients. In this study, the evaluation of the Jak2 Exon 12 mutation in patients with PV was done. Materials and Methods: A total of 120 patients with PV were screened for JAK2 V617F gene mutation using amplification refractory mutation system-polymerase chain reaction and Exon12 JAK2 gene mutation by DNA sequencing. Results: There was a significant relationship between the JAK2V617F mutation and hemoglobin, white blood cell, and platelet counts (P < 0.05). Two (7.7%) patients (one male and one female) were positive for JAK2 Exon12 mutation (JAK2R541-E543delinsK, JAK2H531Q, and JAK2V 511G). Conclusions: The high diversity in the JAK2 Exon12 mutation in studies can be due to using different molecular methods. Further studies are needed to investigate the relationship between JAK2 Exon12 mutation and laboratory parameters.