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Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene.
- Source :
- Hemoglobin; Sep2021, Vol. 45 Issue 5, p332-334, 3p
- Publication Year :
- 2021
-
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 A<subscript>0</subscript>. 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 03630269
- Volume :
- 45
- Issue :
- 5
- Database :
- Complementary Index
- Journal :
- Hemoglobin
- Publication Type :
- Academic Journal
- Accession number :
- 156966569
- Full Text :
- https://doi.org/10.1080/03630269.2021.2016442