1. [Study on the incidence of beta-Thalassemia and genotypes among children under 7 year-olds in Nanning, Liuzhou and Baise areas, Guangxi province].
- Author
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Qiu XQ, Chen P, Zhang N, Zeng XY, Huang CQ, Chen WQ, Lin WX, and Li SQ
- Subjects
- Antigens, CD genetics, Child, Child, Preschool, China epidemiology, Gene Frequency, Genotype, Hemoglobin A2 analysis, Hemoglobin E genetics, Humans, Incidence, Infant, Mutation, TATA Box, beta-Globins genetics, beta-Thalassemia epidemiology, beta-Thalassemia genetics
- Abstract
Objective: To conduct research of beta-Thalassemia incidence and genotypes on children below 7 years of age in Nanning, Liuzhou and Baise areas, Guangxi province., Methods: A total of 2261 children aged below 7 in Nanning, Liuzhou and Baise areas were studied. Venous blood was detected by routine blood test, hemoglobin analysis and beta-Thalassemia genotyping., Results: Among 2261 samples, 125 showed high level of HbA2 and were diagnosed as beta-Thalassemia (5.53%). Genotypes of the patients were classified as: 59 cases with beta-globin gene condon (CD) 41-42 mutation, 33 cases CD17 mutation, 18 cases with TA TA box nt-28 mutation, 7 with IVS-II-654 mutation, 3 with CD43 mutation, 3 with HbE mutation, one with CD71-72 and TATA box nt-29 mutation, respectively. The genotyping frequencies of beta-Thalassemia were as follows: 47.20% for CD41-42 mutation, 26.40% for CD17 mutation, 14.40% for TATAbox nt-28 mutation, 5.60% for IVS-II-654 mutation, 2.40% for CD43 mutation, 2.40% for HbE mutation, 0.80% for CD71-72 mutation and TATAbox nt-29 mutation respectively., Conclusion: This study on children in the area with high incidence of beta-Thalassemia reflected the incidence and characteristics of genotypes in this area. Our data also provided evidence for the development of a program on genetic counseling and prevention for thalassemia.
- Published
- 2009