We evaluated a neonate with severe jaundice but a negative family history. Spherocytes were present and suspected hereditary spherocytosis was confirmed by osmotic fragility and eosin-5-maleimide erythrocyte staining. We found he was a compound heterozygote for two pathogenic mutations in the gene encoding α-spectrin: a previously reported αLEPRA inherited from his asymptomatic mother, and a novel α-spectrin mutation in intron 45 +1 disrupting the consensus splice site, from his asymptomatic father.

Keywords:
Hereditary spherocytosis, Jaundice, Anemia, Neonate, Hemolysis, α-Spectrin
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© 2014 S. Karger AG, Basel
2014
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