Impact of JAK2 V617F allele burden on clinical and laboratory parameters in polycythemia vera

Abstract

Aims: To investigate the association between the JAK2 V617F allele burden and clinical and laboratory parameters in polycythemia vera (PV) patients, focusing on its association with thrombotic events, disease severity, and systemic inflammatory markers. Methods: This retrospective study included 71 patients with PV. Data were collected from medical records, including demographics, laboratory values, spleen size, and thrombotic history. Patients were stratified by JAK2 V617F allele burden into subgroups for comparative analysis. Quantitative polymerase chain reaction (PCR) was used to measure allele burden. Statistical analyses were performed using the Mann-Whitney U test, Kruskal-Wallis test, and Spearman correlation, with a significance level of p<0.05. Results: The median JAK2 V617F allele burden was significantly higher in women than in men (9.53% vs. 2.00%, p=0.003). Patients with platelet counts ≥400×10⁹/L had a significantly higher allele burden than those with counts <400×10⁹/L (8.94% vs. 1.33%, p=0.019). There was no significant association between allele burden and thrombotic events (p=0.549) or splenomegaly (p=0.191). Conclusion: JAK2 V617F allele burden is associated with certain laboratory parameters, including platelet count, and varies by gender in patients with PV. Although not significantly associated with thrombotic events or splenomegaly in this cohort, allele burden remains a potentially valuable biomarker for disease monitoring and individualised treatment.

Keywords

• Polycythemia vera
• janus kinase 2
• alleles

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