Objective To genetic diagnosis of HKαα thalassemia cases in Foshan,and analyse the genotype and clinical phenotype of HKαα cases,to provide guidance for genetic counseling and prenatal diagnosis.Methods 16711 patients were received thalassemia gene diagnosis in Nanhai District Maternal and Child Health Hospital of Foshan City from 2020 to 2023.Among the patients,the samples with showing 3.7 weak band and with three bands(-α3.7 weak band,normal α2 alleles and--SEA band)appearing in agarose gel electrophoresis were selected,then the samples of blood routine and HKαα gene diagnosis were performed.Last,the genotype and clinical phenotype of the cases were analyzed.Results A total of 29 HKαα cases were detected,including 1 case of HKαα/αα,β14-15/βN;1 caseof HKαα/αα,β-28/βN;1 case of HKαα/αα,ββE/βN;4 cases of HKαα/αα,β41-42/βN;13 cases of HKαα/αα,βN/βN;7 cases of HKαα/--SEA,βN/βN;1 case of HKαα/αwsα,β41-42/βN;1 case of HKαα/αcsα,βN/βN Conclusion The genetic diagnosis of HKαα thalassemia can reduce the missed diagnosis or misdiagnosis of cases,and provide more accurate guidance for genetic counseling.
维普
万方数据