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Article

First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third generation sequencing.

Annals of hematology - 9 Apr 2026

Zhang Lixian, Zhuang Jianlong, Huang Nan, Fu Wanyu, Chen Chunnuan

Abstract excerpt

BACKGROUND: With the widespread application of third-generation sequencing (TGS) technology, an increasing number of rare or previously unreported β-globin gene variants have been discovered. This study aims to characterize two rare complex β-globin gene variants identified in the Chinese population using TGS, aiming to enrich the spectrum of globin gene variations in this ethnic group. METHODS: Two unrelated...

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Identifiers

PMID: 41954743
DOI: 10.1007/s00277-026-06997-z
PMCID: PMC13065536

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HBB
SEA

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