A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg,HBD: C.139G > A]

Abstract

We report a new δ-chain hemoglobin (Hb) variant observed in a 5-year-old female living in Yulin, Guangxi, China. Capillary electrophoresis revealed splitting of the Hb A₂ peak into two fractions (Hb A₂ and Hb A₂ variant), and the Hb A₂ variant was also detected by high-performance liquid chromatography. However, it could not be detected using matrix-assisted laser desorption lonization-time of flight mass spectrometry. CD41-42 (-TCTT) heterozygosity was observed on the HBB gene by PCR and reverse dot-blot hybridization. Sanger sequencing showed a new transition (G > A) at codon 46 of the HBD gene, resulting in glycine changing to arginine. Based on the patient’s place of residence, the new variant was named Hb A₂-Yulin [δ46(CD5)Gly→Arg,HBD:c.139G > A].

Keywords:

• Hb A₂-yulin
• variant
• δ-globin
• HBD gene

Disclosure statement

The authors reported no potential conflicts of interest.

Additional information

Funding

This work was supported by the Natural Science Foundation of Guangxi (2023GXNSFAA026102) and the Health Department Research Fund of Guangxi (Z20200076).