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Detecting rare thalassemia in children with anemia using third-generation sequencing.

Hematology (Amsterdam, Netherlands) - 1 Dec 2023

Ren Zhen-Min, Li Wu-Jiao, Xing Zhi-Hao, Fu Xiao-Ying, Zhang Ju-Yan, Chen Yun-Sheng, Li De-Fa

Abstract excerpt

BACKGROUND: In China, conventional genetic testing methods can only detect common thalassemia variants. Accurate detection of rare thalassemia is crucial for clinical diagnosis, especially for children that need long-term blood transfusion. This study aims to explore the application value of third-generation sequencing (TGS) in the diagnosis of rare thalassemia in children with anemia. METHODS: We enrolled 20...

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PMID: 37548329
DOI: 10.1080/16078454.2023.2241226

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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