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  • Title: Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
    Author: Nussenzveig RH, Christensen RD, Prchal JT, Yaish HM, Agarwal AM.
    Journal: Neonatology; 2014; 106(4):355-7. PubMed ID: 25277063.
    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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