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Neonatal hereditary spherocytosis: a case report
Carolina Coramusi1, Natalia Lucangeli2, Sarah Vadalà3
1Faculty of Medicine and Psychology, Sapienza University, Rome, Italy. coramusi.1579287@studenti.uniroma1.it.
Italian Journal of Pediatrics
|June 17, 2025
Summary
Neonatal hereditary spherocytosis, a rare red blood cell disorder, requires early diagnosis for effective treatment. Prompt identification of this condition in newborns prevents severe complications and ensures a good quality of life.
Area of Science:
- Genetics
- Hematology
- Pediatrics
Background:
- Hereditary spherocytosis is a genetic disorder impacting red blood cell membranes.
- It causes increased red blood cell destruction (hemolysis), leading to anemia.
- In newborns, symptoms range from mild to severe, including jaundice and enlarged spleen.
Purpose of the Study:
- To highlight the rarity of neonatal-onset hereditary spherocytosis.
- To present a clinical case for literature review and discussion.
- To emphasize the importance of early diagnosis in neonates.
Main Methods:
- Case report of a full-term infant with a family history of hereditary spherocytosis.
- Diagnostic process initiated upon detection of hemolytic anemia during hospitalization for an unrelated issue.
- Literature review on neonatal-onset hereditary spherocytosis.
Main Results:
- Hemolytic anemia was detected in the neonate.
- Appropriate therapy was initiated following diagnosis.
- The patient experienced a positive therapeutic outcome.
Conclusions:
- Neonatal spherocytosis should be considered in the differential diagnosis of newborns presenting with jaundice or anemia.
- Early diagnosis is crucial for initiating appropriate therapy.
- Timely intervention allows affected infants to maintain a normal quality of life.
