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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.

Abstract
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: c.49G > C] (77.0%), followed by Hb A2-Yialousa [δ27(B9)Ala → Ser; HBD: c.82G > T] (12.0%), Hb A2-Babinga [δ136(H14)Gly → Asp; HBD: c.410G > A] (3.0%), Hb A2-Troodos [δ116(G18)Arg → Cys; HBD: c.349C > T] (1.0%), Hb A2-Coburg [δ116(G18)Arg → His; HBD: c.350G > A] (2.0%) and Hb A2-Indonesia [δ69(E13)Gly → Arg; HBD: c.208G > C] (1.0%). Three novel variants were identified: Hb A2-Calderdale [codon 2 (CAT > AAT), His → Asn; HBD: c.7C > A], Hb A2-Walsgrave [codon 52 (GAT > CAT), Asp → His; HBD: c.157G > C] and Hb A2-St. George's [codon 81 (CTC > TTC), Leu → Phe; HBD: c.244C > T]. In addition, two known δ-thal mutations were observed: -68 (C > T); HBD: c.-118C > T and codon 4 (ACT > ATT); HBD: c.14C > T. Amplification refractory mutation system (ARMS) primers were developed to provide a simple molecular diagnostic test for the most common variant, Hb [Formula: see text]. Three of the variants had a characteristic HPLC retention time that can be used for a presumptive diagnosis.
AuthorsMohamed S M Khalil, Samy Marouf, David Element, Adele Timbs, Alice Gallienne, Anna Schuh, John M Old, Shirley Henderson
JournalHemoglobin (Hemoglobin) Vol. 38 Issue 3 Pg. 201-6 ( 2014) ISSN: 1532-432X [Electronic] England
PMID24601842 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Hemoglobins, Abnormal
  • delta-Globins
Topics
  • DNA Mutational Analysis
  • Female
  • Hemoglobins, Abnormal (genetics)
  • Humans
  • Male
  • Molecular Diagnostic Techniques (methods)
  • Mutation
  • United Kingdom (epidemiology)
  • delta-Globins (genetics)
  • delta-Thalassemia (diagnosis, epidemiology, genetics)

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