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Article

Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)).

European journal of human genetics : EJHG - 1 Sept 2015

Marchi Nina, Pissard Serge, Cliquennois Manuel, Vasseur Christian, Le Metayer Nathalie, Mereau Claude, Jouet Jean Pierre, Georgel Anne-France, Genin Emmanuelle, Rose Christian

Abstract excerpt

β-Thalassemia is a genetic disease caused by a defect in the production of the β-like globin chain. More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of four nucleotides in the first exon of β-globin gene in several families of patients living in Nord-Pas-de-Calais (France). Using the...

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Identifiers

PMID: 25469539
DOI: 10.1038/ejhg.2014.263
PMCID: PMC4538212

Genes

HBB

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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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