title: Decision making at the bedside: diagnosis of hereditary spherocytosis in a transfused infant.
abstract: A large group of hereditary spherocytosis (HS) patients manifest the clinical signs of this condition during the neonatal period and most of them require transfusions. The authors describe a clinical case of a neonate that was transfused. They demonstrated that the splenectomized mother had an HS due to a de novo mutation of one ankyrin allele. By means of this molecular approach, they were able to perform a diagnosis of HS in the newborn. The administration of rhEpo during the first months of life created a condition of transfusion-independence and, after six months, they were able to demonstrate the biochemical defect on the red cell membrane.
authors.affiliation: Dipartimento di Pediatria, Seconda Università di Napoli, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Miraglia del Giudice
authors.forename: S
authors.initials: S
authors.lastname: Perrotta
authors.forename: C
authors.initials: C
authors.lastname: Lombardi
authors.forename: A
authors.initials: A
authors.lastname: Iolascon
mesh_terms: D017707:Erythrocyte Transfusion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013103:Spherocytosis, Hereditary / Q000175:diagnosis*