Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene. (3rd September 2021)

• Record Type: Journal Article
• Authors: Qin, Yan-Ye; Huang, Xiao-Juan; Ma, Yue-Liao; Qin, Jiao-Xiu; Liang, Liang; Li, You-Qiong
• Is Part Of: Hemoglobin. Volume 45:Number 5(2021)
• Page Start: 332
• Page End: 334
• Publication Date: 2021-09-03
• Subjects: Capillary electrophoresis (CE) -- capillary isoelectric focusing electrophoresis (CIFE) -- Hb Dahua -- high performance liquid chromatography (HPLC) -- variant; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2021.2016442
• Languages: English
• ISSNs: 0363-0269

Abstract

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 (A A G>A T G), 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.