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<p>β-thalassemia is one of the most common single-gene inherited conditions in the world, prevalence of β-thalassaemia in south China is 3–4%,increased Hb A2 level is one of the most important markers of β-thalassemia heterozygous carriers.Interaction of <i>HBD</i> gene defect with β-thalassemia can result in the normal Hb A2 β-thalassemia, potentially leading to a misdiagnosis of β- thalassemia carrier state. This study aimed to identify a novel mutation in <i>HBD</i> gene resulted in normal Hb A2 levels in β-thalassemia carriers, and explore the underlying mechanism of the novel <i>HBD</i> gene mutation using a minigene splicing assay and in vivo validation.</p>

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A novel HBD gene mutation associated with normal-range hb A2 in β-thalassemia carriers

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月2日

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  • Lei Zhang,
  • Jingxin Yang,
  • Xingping Li,
  • Yang Liu,
  • Chao Liu,
  • Shan Duan,
  • Lijun Zhang,
  • Wenlan Liu,
  • Ming Chang

摘要

β-thalassemia is one of the most common single-gene inherited conditions in the world, prevalence of β-thalassaemia in south China is 3–4%,increased Hb A2 level is one of the most important markers of β-thalassemia heterozygous carriers.Interaction of HBD gene defect with β-thalassemia can result in the normal Hb A2 β-thalassemia, potentially leading to a misdiagnosis of β- thalassemia carrier state. This study aimed to identify a novel mutation in HBD gene resulted in normal Hb A2 levels in β-thalassemia carriers, and explore the underlying mechanism of the novel HBD gene mutation using a minigene splicing assay and in vivo validation.