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EPAS1-mutated paragangliomas associated with haemoglobin disorders

Maxence Mancini1, Alexandre Buffet1,2, Baptiste Porte1

  • 1Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France.

British Journal of Haematology
|January 10, 2024
PubMed
Summary

Patients with EPAS1-mutated paraganglioma (PGL) often have chronic hypoxia, with many showing haemoglobin disorders like sickle cell disease. This suggests sickle cell trait carriers may face higher EPAS1-PGL risks, impacting surveillance strategies.

Keywords:
EPAS1haemoglobin disordersparagangliomasickle cell disease

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