{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T09:37:26Z","timestamp":1758188246406,"version":"3.44.0"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T00:00:00Z","timestamp":1758153600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary spherocytosis (HS) is a genetically inherited hemolytic anemia resulting from erythrocyte membrane defects, predominantly associated with genetic mutations in membrane protein genes such as <jats:italic>ANK1<\/jats:italic> and <jats:italic>SPTB<\/jats:italic>. The disease exhibits considerable heterogeneity in both clinical manifestations and age of onset, presenting substantial diagnostic challenges for clinicians, particularly in pediatric cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>The patient was a 29-day-old boy who had experienced persistent anemia and a medical history of neonatal hyperbilirubinemia since birth. Upon admission, the infant lacked typical HS manifestations such as splenomegaly, jaundice, and spherocytosis on the peripheral blood smear. Whole-exome sequencing identified a novel frameshift mutation c.3556delG (EX30, NM_000037.4), resulting in an amino acid alteration p.Glu1186Lysfs*3. Subsequent Sanger sequencing-based family segregation analysis confirmed that this mutation originated from the paternal allele. Based on the characteristic clinical manifestations and genetic findings, a definitive diagnosis of HS was established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In neonates presenting with unexplained recurrent anemia, particularly those with a history of neonatal hyperbilirubinemia, HS should be suspected. Due to the atypical manifestations, genetic analysis serves as a pivotal tool in the early diagnosis of HS, and novel genetic mutations may be identified, which can subsequently be added to the genetic database.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1666585","type":"journal-article","created":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T05:32:22Z","timestamp":1758173542000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel ANK1 frameshift mutation associated with neonatal hereditary spherocytosis: a case 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