Hb A2-Getafe [δ 132 (H10) Lys > Thr, HBD: c.88C > A]: New Mutation in the δ-Globin Gene in a Spanish Patient.

Abstract

We present the case of a 71-year-old Spanish patient with a low Hb A₂ value by high-performance liquid chromatography (HPLC) and an atypical profile by capillary electrophoresis (CE), suggesting an Hb A₂ structural variant. Molecular biology revealed a non-described mutation in codon 132 of the 3rd exon of the HBD gene. This mutant allele codes for a change of amino acid (lysine to threonine) in position 10 of the helix H of the delta (δ) globin chain, described as HBD: c.398A > C or Hb A₂-Getafe. Detection of new variants in the δ-globin chain is crucial since these mutations may mask different pathologies, such as beta (β) thalassemia.