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Article

Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families.

Journal of clinical pathology - 1 Sept 2020

Zhuang Jianlong, Zheng Yu, Wang Yuanbai, Zhuang Qianmei, Jiang Yuying, Xie Qingyue, Zeng Shuhong, Zeng Jianxing

Abstract excerpt

AIMS: β-Thalassaemia is an inherited blood disorder caused by mutations in the β-globin gene cluster. Molecular characterisation of β-thalassaemia is essential for its diagnosis and management. More and more rare and novel mutations have been reported. METHODS: Two Chinese families with β-thalassaemia from Fujian Province were recruited in this study. The phenotypes of the probands were confirmed through...

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PMID: 32107282
DOI: 10.1136/jclinpath-2020-206426

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

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