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