The Frequency of α-Globin Gene Triplication in a Southern Chinese Population

Excerpt

Alpha gene number plays an important role in modulating the phenotype of thalassemia. It has been known that the coexistence of α-globin gene triplication (ααα) is an important modulator of the severity of β-thalassemia trait, exacerbating the phenotypic severity of β-thalassemia by causing more globin chain imbalance [1, 2]. Therefore characterization of α-globin gene mutations can be of great help in identification of hemoglobinopathies. Different frequencies of α-globin triplication have already been reported in many populations [3‐6]. However, there has been no epidemiological study of α-globin gene triplication in Chinese. Here, we report the prevalence of α-globin triplication in a southern China population with high prevalence of β-thalassemia. …