Novel α-Spectrin Mutation in Trans with α-SpectrinLEPRA Causing Severe Neonatal Jaundice from Hereditary Spherocytosis

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 alpha-spectrin: a previously reported alpha(LEPRA) inherited from his asymptomatic mother, and a novel alpha-spectrin mutation in intron 45 + 1 disrupting the consensus splice site, from his asymptomatic father. (C) 2014 S. Karger AG, Basel