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Article

Unmasking rare thalassemia variants through whole-exome sequencing in Huadu District, China: An observational study.

Medicine - 29 May 2026

Guowei Run, Yan Jiang, Jingxia Xu, Changlv Jiang, Lihua Zeng, Bizhen Yu, Jingnan Bi, Cuijin Tan, Yulan Huang, HaoHao Lei, Linhua Ji

Abstract excerpt

In regions with a high prevalence of thalassemia, conventional diagnostic methods may fail to detect atypical or complex genetic variants. Whole-exome sequencing (WES) provides a comprehensive strategy to identify such variants, allowing more accurate genotype-phenotype correlation. Nevertheless, its optimal integration into clinical workflows and its incremental value over standard diagnostic approaches remain...

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Identifiers

PMID: 42216400
DOI: 10.1097/MD.0000000000049002
PMCID: PMC13225566

Genes

HBB
HBD
HBG1
MYB

Variants

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

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