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Comparison of two known chromosomal rearrangements in the δβ-globin complex with identical DNA breakpoints but causing different Hb A(2) levels.

Hemoglobin - 1 Jan 2012

Saller Elisabeth, Moradkhani Kamran, Dutly Fabrizio, Vinatier Isabelle, Préhu Claude, Frischknecht Hannes, Goossens Michel

Abstract excerpt

We report three cases with very heterogeneous Hb A(2) levels caused by known chromosomal rearrangements in the β-globin locus. These rearrangements had their breakpoints at the same region in the δ gene, leading either to the Senegalese δ(0)β(+)-thalassemia (δ(0)β(+)-thal) deletion or to an insertion of a δ gene, known as Anti-Lepore. One patient showed, apart from drastically increased Hb A(2) values of 17.0%,...

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PMID: 22273484
DOI: 10.3109/03630269.2011.644651

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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