关键词: 黔东南州, 侗族, 地中海贫血, 苗族, 儿童, 筛查

Abstract: Objective: To discuss the screening results and clinical characteristics of children of Miao and Dong nationalities with mediterranean anemia in ethnic minority areas of Qiandongnan State of Guizhou Province, and to clarify the differences of the mediterranean anemia among different minorities. Methods: A total of 1 623 children of Miao and Dong nationalities with mediterranean anemia in minority areas of Qiandongnan State were selected by multistage stratified random sampling method; quantitative analysis of HbA2 and HbF was used to screen the selected children with mediterranean anemia initially; phenol chloroform extraction method was applied to extract the DNA from the children with mediterranean anemia; ASO/RDB-PCR reverse dot blot hybridization method was used to analyze the gene characteristics of the children with mediterranean anemia. Results: A total of 1 623 children of Miao and Dong nationalities were selected as the subjects. Among 938 children with Miao nationality, there were 18 children with positive α-mediterranean anemia and 36 children with positive β-mediterranean anemia, and the positive detection rate was 1.92%. Among 685 children with Tong nationality, there were 13 children with positive α-mediterranean anemia and 24 children with positive β-mediterranean anemia, and the positive detection rate was 3.50%. The detection rates of composite of α-and β-mediterranean anemia in the children of Miao nationality and Tong nationality were 1.49% and 4.61%.There was no significant difference in the detection rates of different kinds of mealiterranean anemia between two nationalities (P<0.05). The major gene mutations in α-mediterranean anemia were——SEA/-αα and -α3.7, and the major gene mutations in β-mediterranean anemia were CD17/N and CD14-15/N, while the major gene types of the composite of α-and β-mediterranean anemia were——SEA/β41-42 and——SEA/β17. There was no difference in the positive rates of major gene types of different kinds of mediter ranean anemia between two nationalities(P<0.05). Conclusion: There is no difference in the positive rate of children of Miao and Dong nationalities with mediterranean anemia in minority areas of Qiandongnan State. CD17/N,——SEA/-αα and——SEA/β41-42 are the major gene types of α-, β-, and αβ-mediterranean anemia, respectively.

Key words: Qiandongnan State, Dong minority, mediterranean anemia, Miao minority, children, screening