A case report of neonatal hereditary spherocytosis with a new mutation in the ANK1 gene
To analyze the clinical features,diagnosis and treatment process,and genetic testing results of a case diagnosed with hereditary spherocytosis (HS) in the neonatal period.The case was jaundice and spherical red blood cells were accounting for 30％ on peripheral blood smear.Gene sequencing analysis showed that there was one heterozygous mutation in the ANK1 gene.The same site mutation was detected in her mother,and who had a similar medical history.The gene mutation site was not included in the Human Gene Mutation Database (HGMD) and had not been reported in the literature,and it was a new mutation.The clinical phenotype of HS was non-specific,and it was mainly manifested as neonatal hyperunconjugated bilirubinemia in the early neonatal period,and anemia appears about 1 week after birth.Genetic testing was an important means of detecting the cause of hemolytic anemia in Coombs-negative neonates and infants.
万方数据
维普
