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[Analysis of five Chinese individuals with rare thalassemia mutation HBB: c.93-21G＞A].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2024

Zeng Guangkuan, Ge Yiyuan, Ma Xiaomin, Yu Xiaohua, Lai Bairu, Liao Yuwei, Liu Lili, Cao Yanbin, Zeng Yanqing, Huang Yuchan, Liang Jianlian, Yang Liye

Abstract excerpt

OBJETIVE: To explore the hematological phenotype and genotypic characteristics of five Chinese individuals with a rare thalassemia mutation HBB: c.93-21G＞A. METHODS: A retrospective study was carried out on five individuals identified by the People's Hospital of Yangjiang and Guangzhou Hybribio Co., Ltd. from May 2018 to September 2022. Routine blood test and hemoglobin electrophoresis were performed, and the...

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PMID: 39344609
DOI: 10.3760/cma.j.cn511374-20240108-00015

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