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Start Over Author "Yaish, Hassan" Journal neonatology
6 results on '"Yaish, Hassan"'

6. Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.

Author

Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, and Yaish HM

Subjects
Comorbidity, Elliptocytosis, Hereditary epidemiology, Female, Humans, Infant, Jaundice, Neonatal epidemiology, Jaundice, Neonatal therapy, Male, Mutation genetics, Pedigree, Phototherapy, Treatment Outcome, Elliptocytosis, Hereditary genetics, Genetic Variation genetics, Jaundice, Neonatal genetics, Spectrin genetics
Abstract

We cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE). As neonates, the nine relatives did not have any significant jaundice or anemia that was recognizable. Blood films on the proband suggested a diagnosis of pyropoikilocytosis. Analysis of the α-spectrin gene (SPTA1) in the proband revealed two previously reported low-frequency heterozygous polymorphisms of unknown clinical significance and the α(LELY) allele. In addition, a novel heterozygous mutation was identified in exon 2 of the β-spectrin gene SPTB. No mutations were identified in ANK1 (ankyrin-1), SLC4A1 (band 3), EPB41 (band 4.1), or EPB42 (band 4.2)., (© 2013 S. Karger AG, Basel.)

Published
2014
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