Journals / Anatolian Current Medical Journal / 2026 / Volume: 7 Issue: 5

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

Özlem Beyler(UNIVERSITY OF HEALTH SCIENCES, DİYARBAKIR GAZİ YAŞARGİL HEALTH RESEARCH CENTER, DEPARTMENT OF INTERNAL MEDICINE, DEPARTMENT OF INTERNAL MEDICINE, HEMATOLOGY)0000-0002-2032-8877
Cengiz Demir(UNIVERSITY OF HEALTH SCIENCES, DİYARBAKIR GAZİ YAŞARGİL HEALTH RESEARCH CENTER, DEPARTMENT OF INTERNAL MEDICINE, DEPARTMENT OF INTERNAL MEDICINE, HEMATOLOGY)0000-0001-9856-184X
Pages
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Publication Date
2025-09-15
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data:Methods: This retrospective study included 71 patients with PV.
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Polycythemia vera · janus kinase 2 · alleles

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.

Özet

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.

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Cite This Article

Beyler, Ö., Demir, C. (2025). Impact of JAK2 V617F allele burden on clinical and laboratory parameters in polycythemia vera. Anatolian Current Medical Journal, Volume: 7 Issue: 5. https://doi.org/10.38053/acmj.1715880

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