Genetic Markers of Erythrocytosis: Can the Presence of JAK2 Mutation Be Determined via Complete Blood Count Parameters and/or Serum Erythropoietin Level?

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This research aims to predict the JAK2V617F mutation presence using blood parameters and serum EPO levels in patients with erythrocytosis.
Conducted a retrospective analysis of 186 patients with erythrocytosis from 2022 to 2025.
Measured demographic, haematological, and biochemical parameters, including serum EPO levels.
Compared findings based on the presence of the JAK2V617F mutation using statistical analyses, including logistic regression and ROC analysis.
Out of 186 patients, 35 (18.8%) tested positive for the JAK2V617F mutation.
Mutation-positive patients were found to be significantly older.
Patients with the mutation showed decreased levels of haemoglobin and other red blood cell indices compared to those without the mutation.

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Retrospective analysis predicts JAK2 mutation presence in erythrocytosis at high altitudes, suggesting clinical relevance.

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Koyun et al. (2026) studied this question.

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