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Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis.

Clinical biochemistry - 1 Mar 2023

Xu Runhong, Li Hui, Yi Song, Du Jun, Jin Jianguo, Qin Yayun, Jiang Yufei, Gao Tangxinzi, Zhang Chengcheng, Yi Meiqi, Liu Yinyin, Meng Wanli, Li Jiaqi, Song Jieping

Abstract excerpt

BACKGROUND: α-thalassemia is an inherited blood disorder caused by variants in the α-globin gene cluster. Identification of the pathogenic α-globin gene variants is important for the diagnosis and management of thalassemia. METHODS: Two suspected families from Xiantao, Hubei Province were recruited in this study. The family members underwent hemoglobin testing. Polymerase Chain Reaction based reverse dot blot...

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PMID: 36610469
DOI: 10.1016/j.clinbiochem.2022.12.018

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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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