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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 reveals genomic variants in 61% of adults with unexplained erythrocytosis, suggesting new diagnostic pathways.

Key Points

  • This study aims to evaluate the effectiveness of next-generation sequencing in diagnosing hereditary erythrocytosis in adults without JAK2 mutations.
  • Adults with unexplained erythrocytosis underwent next-generation sequencing to identify genetic variants.
  • Variant classification followed ACMG-AMP guidelines, assessing pathogenicity and variants of uncertain significance.
  • Data on family history, thrombosis, and symptoms were recorded alongside genetic findings.
  • Genomic variants identified in 61% of adult patients, with noticeable variants linked to PIEZO1 and HIF1A.
  • Clinical symptoms were reported, with hyperviscosity-related symptoms observed in 55% of patients.
  • Thrombotic events were noted in 16% of patients, with no consistent link to genetic variants.

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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Also Consider

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  5. 5Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children2025