Abstract: 【Abstract】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.
张媛媛 李中原 胡晓红. 新生儿遗传性球形红细胞增多症ANK1基因新发突变1 例报告[J]. 发育医学电子杂志, 2024, 12(6): 465-468,475.
Zhang Yuanyuan, Li Zhongyuan, Hu Xiaohong. A case report of neonatal hereditary spherocytosis with a new mutation in the ANK1 gene. Journal of Developmental Medicine(Electronic Version), 2024, 12(6): 465-468,475.
2024, Vol. 12 
