[Study on the incidence of beta-Thalassemia and genotypes among children under 7 year-olds in Nanning, Liuzhou and Baise areas, Guangxi province].
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.


CONCLUSIONS
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.
Qiu
Xiao-qiang
XQ
Department of Epidemiology, College of Public Health, Guangxi Medical University, Nanning 530021, China.
Chen
Ping
P
Zhang
Ning
N
Zeng
Xiao-yun
XY
Huang
Cai-qian
CQ
Chen
Wen-qiang
WQ
Lin
Wei-xiong
WX
Li
Shu-quan
SQ
D015703:Antigens, CD / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D005787:Gene Frequency; D005838:Genotype; D006443:Hemoglobin A2 / Q000032:analysis; D006446:Hemoglobin E / Q000235:genetics; D006801:Humans; D015994:Incidence; D007223:Infant; D009154:Mutation; D016385:TATA Box; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
D015703:Antigens, CD; D055544:beta-Globins; D006443:Hemoglobin A2; D006446:Hemoglobin E