Xiu-Yun Yao1, Jie Yu, Shi-Ping Chen, Jian-Wen Xiao, Qi-Chen Zheng, Hai-Yan Liu, Lei Zhang, Ying Xian, Lin Zou. 1. Division of Hematology, Children's Hospital, Chongqing Medical University, the Ministry of Education Key Laboratory of Child development and Disorders, Chongqing 400014, China; Key laboratory of Pediatrics in Chongqing, Chongqing 400014, China; Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
Abstract
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.
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.