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Article

EPAS1-mutated paragangliomas associated with haemoglobin disorders.

British journal of haematology - 1 Mar 2024

Mancini Maxence, Buffet Alexandre, Porte Baptiste, Amar Laurence, Lussey-Lepoutre Charlotte, Crinière Lise, Baudin Eric, Meatchi Tchao, Gimenez-Roqueplo Anne-Paule, Favier Judith, Burnichon Nelly

Abstract excerpt

We report a large series of 40 patients presenting EPAS1-mutated paraganglioma (PGL) in whom we investigated a cause underlying chronic hypoxia. Four patients suffered from hypoxaemic heart disease. In patients with available haemoglobin electrophoresis results, 59% presented with a haemoglobin disorder, including six with sickle cell disease, five with sickle cell trait and two with heterozygous haemoglobin C...

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Identifiers

PMID: 38195958
DOI: 10.1111/bjh.19278

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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