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The consequence of a gain is an overproduction of alpha\u2010globin chains, which aggravates a beta\u2010thalassaemia trait into an intermedia phenotype (non\u2010transfusion\u2010dependent thalassaemia, NTDT). Here, we report the case of a young girl referred for a beta\u2010NTDT with a combination never described in the literature: a heterozygous beta\u2010thalassaemia mutation associated with a copy number gain of the alpha\u2010globin locus and \u2010alpha 3.7 deletion on the same allele.<\/jats:p>","DOI":"10.1111\/bjh.19715","type":"journal-article","created":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T01:09:46Z","timestamp":1724029786000},"page":"1959-1962","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Beta\u2010thalassaemia intermedia due to a complex alpha\u2010globin rearrangement and a heterozygous beta thalassaemia mutation"],"prefix":"10.1111","volume":"205","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-7439-192X","authenticated-orcid":false,"given":"Victor","family":"Marin","sequence":"first","affiliation":[{"name":"Laboratory of Biochemistry University Hospital Centre Bordeaux  Bordeaux France"},{"name":"University of Bordeaux, Inserm, UMR1312, BRIC, BoRdeaux Institute of Oncology  Bordeaux Aquitaine France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoann","family":"Huguenin","sequence":"additional","affiliation":[{"name":"University Hospital Centre Bordeaux, Pellegrin Hospital Group Children's Hospital, Pediatry Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucile","family":"Bessi","sequence":"additional","affiliation":[{"name":"Hospital Centre Pau, Pediatry  Pau Aquitaine\u2010Limousin\u2010Poitou France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Weinmann","sequence":"additional","affiliation":[{"name":"Laboratory of Hematology University Hospital Centre Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Augis","sequence":"additional","affiliation":[{"name":"Laboratory of Hematology University Hospital 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