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

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...

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Bibliographic Details
Published in:Hemoglobin 2021-09, Vol.45 (5), p.332-334
Main Authors: Qin, Yan-Ye, Huang, Xiao-Juan, Ma, Yue-Liao, Qin, Jiao-Xiu, Liang, Liang, Li, You-Qiong
Format: Article
Language:English
Subjects:
beta-Globins - genetics
China
Chromatography, High Pressure Liquid
Hemoglobins, Abnormal - genetics
Heterozygote
Humans
Infant
Lysine - genetics
Male
Mutation
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Summary: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 A . Direct DNA sequencing of the β-globin gene revealed heterozygosity for a missense mutation at codon 59 (A G>A G), causing a lysine to methionine substitution [β59(E3)Lys→Met; : c.179A>T]. We decided to name the variant Hb Dahua for the place of origin of the proband.
ISSN:0363-0269
1532-432X
DOI:10.1080/03630269.2021.2016442