Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China.

BACKGROUND AND AIMS: Thalassemia is one of the most common hereditary disorders. This study aimed to investigate the prevalence of thalassemia and the mutation spectrum in Chongqing, the southern area of China. METHODS: A total of 1057 children were recruited from Chongqing. Hematological parameters were examined and globin genes were genetically analyzed. RESULTS: The total frequency of thalassemia carriers was 7.76% in this group of children. Among these, α-thalassemia was 5.20%, β-thalassemia was 1.99% and abnormal hemoglobin variant was 0.57%. Furthermore, 24 cases of α-triplication were detected, frequency of which was 2.55%. The true prevalence of silent α-thalassemia was first reported in this study. In addition, six novel mutations that give rise to α-thalassemia and two rare abnormal hemoglobin variants were first identified in Chinese population. CONCLUSIONS: Our data suggested that the population in Chongqing are at high risk of α- and β-thalassemia. The findings will be useful for genetic counseling and the prevention of severe thalassemias in this area.

Duke Scholars

Author Ying Xian Neurology, Neurocritical Care