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Article

Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay.

Molecular genetics & genomic medicine - 1 Jan 2024

Shao Binbin, Wang Yuguo, Zhang Jingjing, Wang Yan, Tan Juan, Wang Lulu, Hu Ping, Tan Jianxin, Xu Zhengfeng

Abstract excerpt

BACKGROUND: Thalassemia is a common genetic disorder in southwestern China, and an increasing number of cases from eastern China have been recently reported. Here, we developed a rapid, convenient, and accurate assay to evaluate the mutation spectrum of thalassemia in eastern China. METHODS: A carrier screening assay for 61 hotspot variants among HBA1/HBA2 and HBB (OMIM: 141800, 141850, and 141900) genes was...

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PMID: 38112059
DOI: 10.1002/mgg3.2344
PMCID: PMC10767610

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