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

Yuan-Yuan Huang; Jun Huang; Li-Hua Ye; Liang Liang; You-Qiong Li

doi:10.1080/03630269.2022.2069576

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

Hemoglobin. 2022 May;46(3):187-190. doi: 10.1080/03630269.2022.2069576. Epub 2022 May 26.

Authors

Yuan-Yuan Huang¹, Jun Huang¹, Li-Hua Ye¹, Liang Liang², You-Qiong Li²

Affiliations

¹ Department of Clinical Laboratory, Women and Children Care Hospital of Laibin, Laibin, Guangxi Zhuang Autonomous Region, Laibin, People's Republic of China.
² Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.

PMID: 35616292
DOI: 10.1080/03630269.2022.2069576

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.

Keywords: Capillary electrophoresis (CE); Hb Laibin; hemoglobin (Hb) variant; high performance liquid chromatography (HPLC); thalassemia.

MeSH terms

Arginine / genetics
China
Codon
Hemoglobins, Abnormal* / genetics
Humans
Leucine / genetics
Mutation
beta-Globins / genetics

Substances

Codon
Hemoglobins, Abnormal
beta-Globins
Arginine
Leucine