Analysis of the thalassemia gene mutation types among children in Hangzhou
Objective To analyze the types and proportions of gene mutations in children with thalassemia in Hang-zhou area,understand the prevalence of thalassemia genes in the local area,and provide reference for the dynamic changes in genotype caused by population mobility,early screening,and genetic counseling prevention in the future.This has reference significance for the prevention and treatment of thalassemia.Methods Detect gene deletions and mutations of α-globin andβ-globin by fluorescence PCR.Results 277 cases of thalassemia were detected.There are a total of 141 cases of α-thalassemia,including--SEA/αα genotype 85.11％(120/141),-α3.7/αα genotype 7.80％(11/141),-α3.7/--SEA genotype 4.26％(6/141).There were 132 cases of β-thalassemia,including CD41-42(-TTCT)mutant genotype 36.36％(48/132),IVS-Ⅱ-654(C＞T)mutant genotype 31.82％(42/132),and CD17(A＞T)mutant genotype 17.42％(23/132).In addition,four cases of α-globin andβ-globin gene mutations were detected.Conclusion The genotype of thalassemia among children in this region are diverse,which has reference significance for guiding future eugenics.
thalassemia in childrencommon gene mutation typesα-thalassemiaβ-thalassemia
NETL
NSTL
万方数据
