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December 8, 2025BloodOpen Access

Next-generation sequencing panel for hereditary erythrocytosis identifies genomic variants in over half of adults with otherwise unexplained erythrocytosis

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Authors

APAnimesh PardananiNGNaseema Gangat

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Overview

Next-generation sequencing detects genomic variants in over half of adults with unexplained erythrocytosis, suggesting implications for treatment and thrombosis risk.

Key Points

  • To assess the diagnostic yield of next generation sequencing for hereditary erythrocytosis in adults with JAK2-unmutated erythrocytosis.
  • Conducted next-generation sequencing panel for hereditary erythrocytosis in adults with unexplained erythrocytosis
  • Analyzed clinical phenotype, genetic findings, treatment approaches, and thrombotic outcomes
  • Utilized ACMG-AMP guidelines for variant curation
  • Identified genomic variants in 61% of patients with JAK2-unmutated erythrocytosis
  • Most frequent variants were heterozygous variants in PIEZO1
  • Thrombotic events occurred in 16% of patients, with no significant association to variant presence
  • Some patients reported improvement in symptoms post-phlebotomy, yet no correlation with hemoglobin or hematocrit levels

Cite This Study

Pardanani et al. (2025) studied this question.

synapsesocial.com/papers/693624ce4fa91c937236cf8bhttps://doi.org/10.1182/blood-2025-2877
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