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

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:

• β-Thalassemia (β-thal)
• δ chain hemoglobin (Hb) variant
• Hb A₂-Tianhe

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by National Natural Science Foundation of China [81571448] and Guangdong Provincial Department of Science and Technology Agency [2016A020215218].