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

Wenjuan Wang1, Zixuan Ding1, Airui Jiang1

  • 1Jiangsu 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.

Hemoglobin
|April 24, 2023
PubMed

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 SuqianHemoglobin (Hb) varianthigh performance liquid chromatography(HPLC)

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