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Article

Nanopore third-generation sequencing for the diagnosis of rare hemoglobinopathies in Southern China.

Journal of human genetics - 1 Sept 2026

Lin Fen, Yang Shi-Xiong, Ge Yi-Yuan, Yang Ying, Xie Long-Xu, Yang Li-Ye

Abstract excerpt

Thalassemia, a genetically inherited hemoglobinopathy, represents a significant global health challenge with profound socioeconomic implications, particularly in endemic regions. The emergence of third-generation sequencing (TGS) technologies has revolutionized thalassemia research and diagnostic paradigms, offering unprecedented capabilities for comprehensive genetic characterization. Between 2021 and 2024, we...

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PMID: 42151528
DOI: 10.1038/s10038-026-01477-8

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HBB
HBA1
HBA2

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