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

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.