Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals

Abstract

We identified two novel δ-globin gene mutations in two families during routine thalassemia screening. One missense mutation at codon 73 on the δ-globin gene [δ73(E17)Asp→Val, HBD: c.221A>T] which results in a Hb A₂ variant homologous to the β-globin gene variant called Hb Mobile [β73(E17)Asp→Val, HBB: c.221A>T] and we have named this variant Hb A₂-Henan. The other is a nonsense mutation [δ7(A4)Glu→Stop, HBD: c.22G>T] which gives rise to a stop codon (TAG) at codon 7, resulting in δ⁰-thalassemia (δ⁰-thal). The Hb A₂ in one individual with homozygous HBD: c.22G>T was absent.

Keywords:

• δ-Globin gene
• hemoglobin (Hb) variant

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

The publication fee was supported by Social Developmental Project of Dongguan City, Dongguan, People’s Republic of China [201750715007181 and 2014108101016].