Article
A novel HBD gene mutation associated with normal-range hb A2 in β-thalassemia carriers.
Annals of hematology - 2 Mar 2026
Zhang Lei, Yang Jingxin, Li Xingping, Liu Yang, Liu Chao, Duan Shan, Zhang Lijun, Liu Wenlan, Chang Ming
Abstract excerpt
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...
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