Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene

Abstract

We report a novel hemoglobin (Hb) variant found in a Chinese individual from the Guangxi Zhuang Autonomous Region of the People’s Republic of China. The proband was a 6-month-old boy who came from Dahua county, Hechi City. Capillary zone electrophoresis (CZE) showed an abnormal peak (51.2%) in zone 13. However, capillary isoelectric focusing electrophoresis (CIFE) presented an unknown peak in zone Bart’s (51.4%). High performance liquid chromatography (HPLC) displayed an unknown peak (42.1%) at retention time 2.44 min., eluting before Hb A₀. Direct DNA sequencing of the β-globin gene revealed heterozygosity for a missense mutation at codon 59 (AAG>ATG), causing a lysine to methionine substitution [β59(E3)Lys→Met; HBB: c.179A>T]. We decided to name the variant Hb Dahua for the place of origin of the proband.

Keywords:

• Capillary electrophoresis (CE)
• capillary isoelectric focusing electrophoresis (CIFE)
• Hb Dahua
• high performance liquid chromatography (HPLC)
• 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

This study was supported by the Health Department Research Fund of Guangxi [Z2011449, Z20200076].