β-Thalassemias

To the Editor: In their review article, Taher et al. (Feb. 25 issue) 1 outline the long-standing challenges related to β-thalassemias, including the lack of data on the molecular epidemiology of this group of disorders in developing countries. Our experience with identification of variants in the β-...

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Bibliographic Details
Published inThe New England journal of medicine Vol. 384; no. 22; pp. 2165 - 2166
Main Authors Thong, Meow-Keong, Ngim, Chin-Fang, Georgalas, Ilias, Petrou, Petros, Kanakis, Menelaos, Taher, Ali T, Musallam, Khaled M, Cappellini, M. Domenica
Format Journal Article
LanguageEnglish
Published Boston Massachusetts Medical Society 03.06.2021
Subjects
Developing countries
Epidemiology
Founder effect
Gene deletion
Indigenous peoples
LDCs
Phenotypes
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Summary:To the Editor: In their review article, Taher et al. (Feb. 25 issue) 1 outline the long-standing challenges related to β-thalassemias, including the lack of data on the molecular epidemiology of this group of disorders in developing countries. Our experience with identification of variants in the β-globin gene among the indigenous people in the interior of northern Malaysian Borneo showed the founder effect of a large homozygous β-globin gene deletion that causes a severe phenotype. 2 Other researchers in Southeast Asia and Oceania have confirmed the presence of this hitherto unknown variant stretching from Christmas Island to Hawaii. We need to have . . .
Bibliography:SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ObjectType-Commentary-2
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMc2105064