Document Detail

Decision making at the bedside: diagnosis of hereditary spherocytosis in a transfused infant.
MedLine Citation:
PMID:  9592985     Owner:  NLM     Status:  MEDLINE    
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.
E Miraglia del Giudice; S Perrotta; C Lombardi; A Iolascon
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Haematologica     Volume:  83     ISSN:  0390-6078     ISO Abbreviation:  Haematologica     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-06-24     Completed Date:  1998-06-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0417435     Medline TA:  Haematologica     Country:  ITALY    
Other Details:
Languages:  eng     Pagination:  347-9     Citation Subset:  IM    
Dipartimento di Pediatria, Seconda Università di Napoli, Italy.
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MeSH Terms
Erythrocyte Transfusion*
Infant, Newborn
Spherocytosis, Hereditary / diagnosis*

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