Objective To investigate the clinical and genetic characteristics of children with hereditary spherocytosis(HS).Methods The clinical and laboratory characteristics of 6 patients with HS who were clinically diagnosed from August 2019 to October 2023 were summarized,and the mutation of erythrocyte membrane protein gene in these 6 patients was detected by second-generation sequencing technology,and the mutation composition and type of gene mutation were analyzed.Results Among the 6 HS patients,2 cases were with ANK1 gene mutation,3 cases with SPTB gene mutation and 1 with SPTA1 gene mutation.Among the 6 patients,there were 2 cases of nonsense mutation,1 case of missense mutation,1 cases of shear mutation,and 2 cases of frameshift mutation.Among them,case 1 received miscellaneous mutations from the father and mother,the mutation from the mother was nonsense,the mother had HS clinical manifestations,the mutation from the father was missense mutation,and the paternal mutation had no clinical manifestations.Among the 6 patients with HS,of which cases 2 and 6 were spontaneous mutations.Conclusions HS is a hereditary hemolytic disease caused by abnormal erythrocyte membrane protein,which can be confirmed by genetic test.
维普
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