Khalil M.S.M.,Oxford Molecular Diagnostic Center |
Marouf S.,Oxford Molecular Diagnostic Center |
Element D.,St. Georges Hospital |
Timbs A.,Oxford Molecular Diagnostic Center |
And 5 more authors.
Hemoglobin | Year: 2014
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 (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 . Three of the variants had a characteristic HPLC retention time that can be used for a presumptive diagnosis. © 2014 Informa Healthcare USA, Inc.