Decision making at the bedside: diagnosis of hereditary spherocytosis in a transfused infant.
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.
Miraglia del Giudice
E
E
Dipartimento di Pediatria, Seconda Università di Napoli, Italy.
Perrotta
S
S
Lombardi
C
C
Iolascon
A
A
D017707:Erythrocyte Transfusion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013103:Spherocytosis, Hereditary / Q000175:diagnosis*