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

Yan-Ye Qin1, Xiao-Juan Huang1, Yue-Liao Ma1

  • 1Department of Clinical Laboratory, Women and Children Care Hospital of Dahua County, Hechi, Guangxi, China.

Hemoglobin
|December 27, 2021
PubMed

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)Hb Dahuacapillary isoelectric focusing electrophoresis (CIFE)high performance liquid chromatography (HPLC)variant

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