Objective:We investigated the incidence of thalassemia and glucose-6-phosphate dehydrogenase(G6PD)deficiency in people of childbearing age of Hengxian in Guangxi,to further provide scientific data for the diagnosis,tr...Objective:We investigated the incidence of thalassemia and glucose-6-phosphate dehydrogenase(G6PD)deficiency in people of childbearing age of Hengxian in Guangxi,to further provide scientific data for the diagnosis,treatment and prepotency consultation for thalassemia.Methods:A total of 12,489subjects at childbearing age who were undergoing a routine prenatal check-up in Hengxian family planning service stations were recruited in this study between January 2014and December 2014.They were screened for thalassemia by mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH).The people with positive results then underwent thalassemia gene test.The G6PD activities were measured by enzyme kinetic method.Results:The incidence of thalassemia was 20.26%(2,530/12,489)in Hengxian,among which the incidences ofα-thalassemia,β-thalassemia,andα-thalassemia co-inheritance ofβ-thalassemia were13.20%,6.13%and 0.93%respectively.The incidence of G6PD deficiency was 5.39%(617/12,489),and the ratio between male and female is 4.27∶1.25types ofα-thalassemia genotype and 8types ofβ-thalassemia genotype were identified.The genotypes ofSEA/ααand the genotypes of41-42Mβ/Nβwere the most common genetic types forα-thalassemia andβ-thalassemia respectively.Conclusion:Hengxian is a high prevalence area of thalassemia and G6PD deficiency.SEAmutation type is the most common type inα-thalassemia,and the CD 41-42mutation is the most common type inβ-thalassemia in Hengxian.展开更多
基金supported by agrant from Guangxi Science and Technique foundation of Population and Family Planning(No.1108)
文摘Objective:We investigated the incidence of thalassemia and glucose-6-phosphate dehydrogenase(G6PD)deficiency in people of childbearing age of Hengxian in Guangxi,to further provide scientific data for the diagnosis,treatment and prepotency consultation for thalassemia.Methods:A total of 12,489subjects at childbearing age who were undergoing a routine prenatal check-up in Hengxian family planning service stations were recruited in this study between January 2014and December 2014.They were screened for thalassemia by mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH).The people with positive results then underwent thalassemia gene test.The G6PD activities were measured by enzyme kinetic method.Results:The incidence of thalassemia was 20.26%(2,530/12,489)in Hengxian,among which the incidences ofα-thalassemia,β-thalassemia,andα-thalassemia co-inheritance ofβ-thalassemia were13.20%,6.13%and 0.93%respectively.The incidence of G6PD deficiency was 5.39%(617/12,489),and the ratio between male and female is 4.27∶1.25types ofα-thalassemia genotype and 8types ofβ-thalassemia genotype were identified.The genotypes ofSEA/ααand the genotypes of41-42Mβ/Nβwere the most common genetic types forα-thalassemia andβ-thalassemia respectively.Conclusion:Hengxian is a high prevalence area of thalassemia and G6PD deficiency.SEAmutation type is the most common type inα-thalassemia,and the CD 41-42mutation is the most common type inβ-thalassemia in Hengxian.