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Five novel globin gene mutations identified in five Chinese families by next-generation sequencing.

Molecular genetics & genomic medicine - 1 Dec 2021

Zhang Jie, Xie Meijuan, Peng Zhiyu, Zhou Xiaoyan, Zhao Tingting, Jin Chanchan, Yan Yuanlong, Zeng Xiaohong, Li Dongmei, Zhang Yangjia, Su Jie, Feng Na, He Jing, Yao Xiangmei, Lv Tao, Zhu Baosheng

Abstract excerpt

BACKGROUND: Thalassemia is one of the most common inherited diseases worldwide. This report presents three novel cases of α-thalassemia and two novel cases of β-thalassemia caused by five different mutations in the globin gene. METHODS: Next-generation sequencing (NGS) was used to identify novel α- and β-thalassemia in five individuals, which was confirmed by Sanger sequencing of the globin gene. Hematological...

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PMID: 34708592
DOI: 10.1002/mgg3.1835
PMCID: PMC8683637

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