Background: Hereditary spherocytosis (HS) is a form of congenital hemolytic anemia resulting from red
cell membrane protein deficiency. Most cases (75 %) will have a family history of HS, but for those with
no family history, there may be a delay in diagnosis.
Case report: Herein, we report a 3 ½ years old boy of Cambodian origin who presented with anemia,
jaundice, and hepato-splenogaly with no family history of hemolysis. The blood film showed spher
ocytosis and polychromasia with a negative direct agglutination test (DAT). Genomic DNA analysis of the
SPTB gene (NM_001355436.2) revealed a novel, unreported heterozygous variant, c.1720dup,
(p.Glu574GlyfsTer3), confirming as de novo variant and caused HS. Treatment focuses on supportive care,
including folic acid supplementation and transfusion as needed.
Conclusion: This is the first case report of HS resulting from a novel heterozygous SPTB variant in
Cambodia. HS should be considered in the differential diagnosis of hemolytic anemia, regardless of the
patient's ethnic background.
© 2025 Pediatric Hematology Oncology Chapter of Indian Academy of Pediatrics. Published by Elsevier
B.V. This is an open access article under the CC BY-NC-ND license