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- Title
Novel α-Spectrin Mutation in Trans with α-Spectrin Causing Severe Neonatal Jaundice from Hereditary Spherocytosis.
- Authors
Nussenzveig, Roberto H.; Christensen, Robert D.; Prchal, Josef T.; Yaish, Hassan M.; agarwal, archana M.
- 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 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. © 2014 S. Karger AG, Basel
- Subjects
HEREDITARY spherocytosis; JAUNDICE; ANEMIA; NEWBORN infants; HEMOLYSIS &; hemolysins
- Publication
Neonatology (16617800), 2014, Vol 106, Issue 4, p355
- ISSN
1661-7800
- Publication type
Article
- DOI
10.1159/000365586