Background: Hereditary spherocytosis is a genetic disorder affecting red blood cell membranes, leading to increased destruction and haemolysis. In neonates, it ranges from asymptomatic to severe cases with anaemia, jaundice, and spleen issues. Early diagnosis through clinical, laboratory, and genetic tests is vital for prognosis. This clinical case is presented due to the rarity of neonatal-onset spherocytosis, providing an opportunity for a literature review. Case presentation: A full-term baby was born via vaginal delivery with a family history of hereditary spherocytosis. The patient was discharged without complications but was later hospitalized for an unrelated issue, during which haemolytic anemia was detected, leading to the beginning of the diagnostic process and subsequent onset of appropriate therapy with a positive outcome. Conclusions: In cases of neonates with jaundice or anemia, it is crucial to consider neonatal spherocytosis among the differential diagnoses, as early diagnosis allows for appropriate therapy and enables the patient to maintain a normal quality of life.

Neonatal hereditary spherocytosis: a case report / Coramusi, Carolina; Lucangeli, Natalia; Vadalà, Sarah; Parisi, Pasquale; Scapillati, Maria Eleonora. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - 51:1(2025). [10.1186/s13052-025-02049-w]

Neonatal hereditary spherocytosis: a case report

Coramusi, Carolina
Primo
Writing – Original Draft Preparation
;
Lucangeli, Natalia
Secondo
Writing – Original Draft Preparation
;
Parisi, Pasquale
Supervision
;
2025

Abstract

Background: Hereditary spherocytosis is a genetic disorder affecting red blood cell membranes, leading to increased destruction and haemolysis. In neonates, it ranges from asymptomatic to severe cases with anaemia, jaundice, and spleen issues. Early diagnosis through clinical, laboratory, and genetic tests is vital for prognosis. This clinical case is presented due to the rarity of neonatal-onset spherocytosis, providing an opportunity for a literature review. Case presentation: A full-term baby was born via vaginal delivery with a family history of hereditary spherocytosis. The patient was discharged without complications but was later hospitalized for an unrelated issue, during which haemolytic anemia was detected, leading to the beginning of the diagnostic process and subsequent onset of appropriate therapy with a positive outcome. Conclusions: In cases of neonates with jaundice or anemia, it is crucial to consider neonatal spherocytosis among the differential diagnoses, as early diagnosis allows for appropriate therapy and enables the patient to maintain a normal quality of life.
2025
hereditary spherocytosis; phototherapy; cell blood count; red blood cells
01 Pubblicazione su rivista::01i Case report
Neonatal hereditary spherocytosis: a case report / Coramusi, Carolina; Lucangeli, Natalia; Vadalà, Sarah; Parisi, Pasquale; Scapillati, Maria Eleonora. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - 51:1(2025). [10.1186/s13052-025-02049-w]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1742063
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