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.