To explore clinical manifestations and diagnosis in children with hereditary spherocytosis (HS), and review relevant literature.

A child with HS who was admitted to the Children′s Hospital Affiliated to Capital Institute of Pediatrics in April 2018 was selected as research subject. Retrospective analysis method was used to collect clinical case data, and analyze of her medical history, results of relevant laboratory examinations and genetic testing. Related literatures of children with HS in home and abroad databases were reviewed by strategies.This research was in line with the requirements of World Medical Association Declaration of Helsinki revised in 2013.

①The child was a girl, aged 13 years and 8 months. She was 6 years old at first onset, with xanthochromia and icteric sclera, and fatigue as the main manifestations. She has repeatedly visited the county, city and provincial hospitals where she lives, but no definite diagnosis has been obtained. In April 2018, she visited the Children′s Hospital Affiliated to Capital Institute of Pediatrics. ②Main laboratory test results: the proportion of spherical red blood cells was 9% to 27% by peripheral blood smears. Concentrations of total bilirubin was 52.6-313.8 μmol/L, direct bilirubin was 8.2-14.6 μmol/L, and indirect bilirubin was 38.0-302.1 μmol/L which all were abnormally increased by bilirubin testing. At the beginning of hemolysis, erythrocyte osmotic fragility (EOF) was 0.68% NaCl (reference range: 0.38% to 0.46% NaCl), and 0.44% NaCl at complete hemolysis (reference range: 0.28% to 0.36% NaCl). ③Genetic testing results: a suspected heterozygosity loss in exons 2 and 3 of spectrin beta erythrocytic (SPTB) gene was detected and the disease phenotypes were spherocytosis type 2 (autosomal dominant), elliptocytosis type 3 (inherited mode unknown), and fatal or near-fatal neonatal hemolytic anemia (inherited mode unknown). Her father had a heterozygous mutation c. 1118C>T(p.373L) of PIEZO1 gene at chr16-88804044 site. ④Diagnosis and treatment: according to results of laboratory examination and genetic testing, the child was diagnosed as HS, and splenectomy was recommended if necessary. In June 2020, she underwent splenectomy in a local hospital, and after that, her jaundice disappeared and anemia was mild. ⑤Literature review results: a total of 35 pieces of HA related literature were reviewed, 12 cases of HS children reported in 7 pieces of literature were related to SPTB gene. The clinical manifestations of children with SPTB gene mutation at different sites were different.

Clinical manifestations of children with HS are highly heterogeneous and are easily missed diagnosed. Early definite diagnosis and treatment of HS depends on clinical manifestations, targeted laboratory examinations and genetic testing, so as to improve the prognosis of children with HS.