What question did this study set out to answer?

Identify a novel mutation in the HBD gene that results in normal Hb A2 levels in β-thalassemia carriers.

March 4, 2026Annals of Hematology0 citationsOpen Access

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

LZLei ZhangAnhui University of Science and Technology JYJingxin YangShenzhen Maternity and Child Healthcare Hospital XLXingping LiShenzhen Maternity and Child Healthcare Hospital

Key Points

Identify a novel mutation in the HBD gene that results in normal Hb A2 levels in β-thalassemia carriers.
Utilized minigene splicing assay to analyze the mutation effect.
Conducted in vivo validation to confirm findings.
Examined interaction of HBD gene defect with β-thalassemia.
Discovered a novel HBD gene mutation associated with normal Hb A2 levels.
Indicated that this mutation could lead to misdiagnosis of β-thalassemia carriers.

Abstract

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.

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