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

RH Nussenzveig, RD Christensen, JT Prchal… - Neonatology, 2014 - karger.com
RH Nussenzveig, RD Christensen, JT Prchal, HM Yaish, AM Agarwal
Neonatology, 2014karger.com
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 α LEPRA
inherited from his asymptomatic mother, and a novel α-spectrin mutation in intron 45+ 1
disrupting the consensus splice site, from his asymptomatic father.
Abstract
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 α LEPRA inherited from his asymptomatic mother, and a novel α-spectrin mutation in intron 45+ 1 disrupting the consensus splice site, from his asymptomatic father.
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