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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 disease. Histological and transcriptomic characterization of\n                    <jats:italic>EPAS1<\/jats:italic>\n                    tumours revealed increased angiogenesis and high similarities with pseudohypoxic PGLs caused by\n                    <jats:italic>VHL<\/jats:italic>\n                    gene mutations. Sickle haemoglobinopathy carriers could thus be at increased risk for developing\n                    <jats:italic>EPAS1<\/jats:italic>\n                    \u2010PGLs, which should be taken into account in their management and surveillance.\n                  <\/jats:p>","DOI":"10.1111\/bjh.19278","type":"journal-article","created":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T21:49:55Z","timestamp":1704836995000},"page":"1054-1060","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<i>EPAS1<\/i>\n                    \u2010mutated paragangliomas associated with haemoglobin disorders"],"prefix":"10.1111","volume":"204","author":[{"given":"Maxence","family":"Mancini","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellis\u00e9e Ligue contre le Cancer  Paris 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contre le Cancer  Paris France"},{"name":"D\u00e9partement de M\u00e9decine G\u00e9nomique des Tumeurs et des Cancers, F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et de M\u00e9decine G\u00e9nomique Assistance Publique\u2010H\u00f4pitaux de Paris (AP\u2010HP) Centre, H\u00f4pital Europ\u00e9en Georges Pompidou  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8190-5853","authenticated-orcid":false,"given":"Judith","family":"Favier","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellis\u00e9e Ligue contre le Cancer  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7972-5845","authenticated-orcid":false,"given":"Nelly","family":"Burnichon","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, Paris Centre de Recherche Cardiovasculaire 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