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Article

Application of targeted sequencing in the molecular diagnosis of thalassemia in Southern China.

Scientific reports - 3 May 2026

Cao Xianzhen, Liu Xiaoyi, Hu Liang, Zeng Shuxian, Ou Debiao, Liu Yanan, Liu Weiqiang, Wei Fengxiang

Abstract excerpt

Thalassemia is a relatively common monogenic inherited blood disorder in southern China. This study aims to evaluate the additional diagnostic yield of targeted sequencing for thalassemia gene compared to traditional mainstream methods, providing evidence to support clinical decision-making and application. A total of 449 specimens with the negative common thalassemia test result were randomly selected for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42071018
DOI: 10.1038/s41598-026-47829-4
PMCID: PMC13334004

Genes

HBA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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