title: A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency.
abstract: The diagnosis of hereditary spherocytosis (HS) in a newborn infant is generally made on the basis of a positive family history, spherocytes on blood film and Coombs-negative hemolytic jaundice of variable severity with an elevated mean corpuscular hemoglobin concentration (MCHC) and a low mean corpuscular volume (MCV). In general, sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) quantification of erythrocyte membrane proteins is not needed to make the clinical diagnosis of HS. However, we observed that a neonate with no family history of HS, but with abundant spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive variety of HS that generally has a severe clinical phenotype.
authors.affiliation: Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
authors.forename: H M
authors.initials: HM
authors.lastname: Yaish
authors.forename: R D
authors.initials: RD
authors.lastname: Christensen
authors.forename: A
authors.initials: A
authors.lastname: Agarwal
mesh_terms: D003298:Coombs Test; D004909:Erythrocyte Indices; D006801:Humans; D007231:Infant, Newborn; D007565:Jaundice / Q000097:blood*; D008297:Male; D013049:Spectrin / Q000172:deficiency*; D013102:Spherocytes; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000209:etiology*
chemical_list: D013049:Spectrin