Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5'-maleimide binding assay

Annals of Hematology
Oliver AndresChristian P Speer

Abstract

Exact diagnosis of hereditary spherocytosis (HS) is widely considered unreliable around birth. However, early postnatal diagnosis at the beginning of congenital hemolysis may be essential for managing neonatal anemia and hemolytic icterus, identifying those at high risk for severe hyperbilirubinemia, irreversible kernicterus, or sudden need for red cell transfusion. We analyzed 37 blood samples from neonates or infants up to six weeks of life that had been collected in-house or shipped to our laboratory due to suspected red cell membrane disorder. By combining assessment of red cell morphology, acidified glycerol lysis test (AGLT), and eosin-5'-maleimide (EMA) binding assay, we were able to clearly exclude HS in 22 and confirm HS in 10 patients, of which one had undergone red cell transfusion prior to blood sampling. Assessment of red cell morphology and normal test results allowed diagnosis of infantile pyknocytosis or Heinz body anemia in three neonates. Re-evaluation of five patients with inconsistent results of AGLT and EMA binding led to confirmation of HS in two cases. Automated analysis of hematologic parameters revealed elevated proportion of hyperdense cells to be a highly significant indicator for HS in neonatal infan...Continue Reading

References

Sep 1, 1983·The Journal of Pediatrics·W Schröter, E Kahsnitz
Jul 1, 1980·British Journal of Haematology·A ZanellaG Sirchia
Oct 4, 2006·Acta Haematologica·Gudrun StoyaWerner Linss
Oct 23, 2008·Lancet·Silverio PerrottaNarla Mohandas
Oct 31, 2014·Journal of Perinatology : Official Journal of the California Perinatal Association·R D ChristensenH M Yaish

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