Hb A2-Tianhe (HBD: c.323G>A): First Report in a Chinese Family with Normal Hb A2-β-Thalassemia Trait

Hemoglobin. 2017 Jul-Nov;41(4-6):291-292. doi: 10.1080/03630269.2017.1398170. Epub 2017 Dec 18.

Abstract

Coinheritance of δ-globin variants along with β-globin gene defects can interfere with correct diagnosis of β-thalassemia (β-thal) trait. In this report, we present the coinheritance of a δ-globin variant, Hb A2-Tianhe [δ107(G9)Gly→Asp; HBD: c.323G>A] and a heterozygous β-thal in a Chinese individual with microcytosis, hypochromia and a normal Hb A2 level.

Keywords: Hb A2-Tianhe; β-Thalassemia (β-thal); δ chain hemoglobin (Hb) variant.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Family
  • Female
  • Hemoglobin A2 / genetics*
  • Humans
  • Middle Aged
  • Mutation, Missense*
  • Quantitative Trait Loci*
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobin A2