title: Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
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.
authors.affiliation: ARUP Laboratories, Salt Lake City, Utah, USA.
authors.forename: Roberto H
authors.initials: RH
authors.lastname: Nussenzveig
authors.forename: Robert D
authors.initials: RD
authors.lastname: Christensen
authors.forename: Josef T
authors.initials: JT
authors.lastname: Prchal
authors.forename: Hassan M
authors.initials: HM
authors.lastname: Yaish
authors.forename: Archana M
authors.initials: AM
authors.lastname: Agarwal
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D017487:Ankyrins / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D004252:DNA Mutational Analysis; D004801:Eosine Yellowish-(YS) / Q000031:analogs & derivatives; D005434:Flow Cytometry; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D041781:Jaundice, Obstructive / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009996:Osmotic Fragility; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D012720:Severity of Illness Index; D013049:Spectrin / Q000235:genetics*; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
chemical_list: D017487:Ankyrins; D013049:Spectrin; C033531:eosin maleimide; D004801:Eosine Yellowish-(YS)