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A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.

Hemoglobin - 1 Jan 2014

Khalil Mohamed S M, Marouf Samy, Element David, Timbs Adele, Gallienne Alice, Schuh Anna, Old John M, Henderson Shirley

Abstract excerpt

We report here the spectrum of δ-globin gene mutations found in the UK population. Nine different δ chain variants and two δ-thalassemia (δ-thal) mutations were characterized in a study of 127 alleles in patients with either a low Hb A2 value or a split Hb A2 peak on high performance liquid chromatography (HPLC). The most common δ chain variant was Hb [Formula: see text] (or Hb B2) [δ16(A13)Gly → Arg; HBD:...

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Identifiers

PMID: 24601842
DOI: 10.3109/03630269.2014.885908

Genes

HBD
CAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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