Hb Laibin [β96(FG3)Leu→Arg; HBB: c.290T>G]: A Novel Hemoglobin Variant Described in a Chinese Family. (4th May 2022)

• Record Type: Journal Article
• Authors: Huang, Yuan-Yuan; Huang, Jun; Ye, Li-Hua; Liang, Liang; Li, You-Qiong
• Is Part Of: Hemoglobin. Volume 46:Number 3(2022)
• Page Start: 187
• Page End: 190
• Publication Date: 2022-05-04
• Subjects: Capillary electrophoresis (CE) -- Hb Laibin -- hemoglobin (Hb) variant -- high performance liquid chromatography (HPLC) -- thalassemia; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2022.2069576
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We report a novel β chain hemoglobin (Hb) variant found in a Chinese family. A high level of Hb F was observed on capillary electrophoresis (CE). However, high performance liquid chromatography (HPLC) showed a high level of Hb A2 . DNA sequencing revealed a single base substitution (T>G) at codon 96 of exon 2 of the β-globin gene. This alters the normally encoded leucine to arginine [β96(FG3)Leu→Arg; HBB : c.290T>G] that we propose to name Hb Laibin for the region of origin of the proband. The pedigree study showed that it was inherited from his mother.