Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China

Background: Thalassemia is a hereditary blood disease resulting from globin chain synthesis impairment because of α- and/or β-globin gene variants. α-thalassemia is characterized by non-deletional and deletional variants in the HBA gene locus, of which rare deletional variants are difficult to detec...

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Bibliographic Details

Published in:	Frontiers in Genetics
Main Authors:	Yan Yuan, Xia Zhou, Jing Deng, Qun Zhu, Zanping Peng, Liya Chen, Ya Zou, Aiping Mao, Wanli Meng, Minhui Ma, Hongliang Wu
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-03-01
Subjects:	α-globin gene locus large deletion long-read sequencing thalassemia rare variant
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1156071/full