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Article

Large-Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third-Generation Sequencing.

Clinical genetics - 1 Aug 2025

Zhang Ying, Wu Jiangfen, Ren Lingyan, Li Fangfang, Wu Xian, Guo Min, You Guiqin, Fu Zhengqian, Long Guiping, Huang Shengwen

Abstract excerpt

This study aimed to comprehensively characterize the molecular spectrum of thalassemia by retrospectively analyzing genetic screening results from a large cohort of individuals. Peripheral blood samples were collected from 26 047 individuals seeking care at the Departments of Obstetrics and Gynecology, Pediatrics, Reproductive Medicine, and Hematology across multiple regional hospitals in Guizhou Province, China....

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PMID: 40091797
DOI: 10.1111/cge.14729

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