title: 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.
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).
authors.affiliation: Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, Utah, USA.
authors.forename: Robert D
authors.initials: RD
authors.lastname: Christensen
authors.forename: Roberto H
authors.initials: RH
authors.lastname: Nussenzveig
authors.forename: N Scott
authors.initials: NS
authors.lastname: Reading
authors.forename: Archana M
authors.initials: AM
authors.lastname: Agarwal
authors.forename: Josef T
authors.initials: JT
authors.lastname: Prchal
authors.forename: Hassan M
authors.initials: HM
authors.lastname: Yaish
mesh_terms: D015897:Comorbidity; D004612:Elliptocytosis, Hereditary / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007223:Infant; D007567:Jaundice, Neonatal / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010789:Phototherapy; D013049:Spectrin / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D013049:Spectrin