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Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population.

Molecular genetics & genomic medicine - 1 Jan 2024

Zhuang Jianlong, Jiang Yuying, Chen Yu'e, Mao Aiping, Chen Junwei, Chen Chunnuan

Abstract excerpt

BACKGROUND: Rare and novel variants of HBA1/2 and HBB genes resulting in thalassemia and hemoglobin (Hb) variants have been increasingly identified. Our goal was to identify two rare Hb variants in Chinese population using third-generation sequencing (TGS) technology. METHODS: Enrolled in this study were two Chinese families from Fujian Province. Hematological screening was conducted using routine blood analysis...

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PMID: 38284449
DOI: 10.1002/mgg3.2365
PMCID: PMC10801340

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