Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese

Wenjuan Wang; Zixuan Ding; Airui Jiang; Suning Chen; Huanju Han

doi:10.1080/03630269.2023.2167658

Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese

Hemoglobin. 2023 Jan;47(1):19-20. doi: 10.1080/03630269.2023.2167658. Epub 2023 Apr 24.

Authors

Wenjuan Wang¹, Zixuan Ding¹, Airui Jiang¹, Suning Chen¹, Huanju Han²

Affiliations

¹ Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.
² Department of Medical Management Division, The First Affiliated Hospital of Soochow University, Suzhou, China.

PMID: 37092366
DOI: 10.1080/03630269.2023.2167658

Abstract

We have identified a variant on the β-globin gene in a Chinese female. Sequencing of the HBB gene revealed a Phe→Leu substitution at codon 42[β42(CD1) Phe→Leu, HBB:c.129T > A] which has been named Hb Suqian for where the proband was born.

Keywords: Hb Suqian; Hemoglobin (Hb) variant; high performance liquid chromatography(HPLC).

MeSH terms

Codon
East Asian People
Female
Hemoglobins, Abnormal* / genetics
Humans
beta-Globins* / genetics

Substances

beta-Globins
Codon
Hemoglobins, Abnormal