Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis

Objectivesδ-thalassemia and δ-globin variants are rare hemoglobinopathies. However, co-inheritance of β-thalassemia and δ-globin gene mutations may affect the diagnosis of β-thalassemia carriers when based on the elevated Hb A2. This study aimed to identify and characterize δ-thalassemia and δ-globi...

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Bibliographic Details
Main Authors: Youqiong Li, Lihua Ye, Liang Liang, Lihong Zheng, Yongjun Xiao, Zhongchan Lao, Jinping Bai, Xi He, Qixun Fang, Ting Qin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1584310/full
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