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A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency.
MedLine Citation:
PMID:  23624969     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
The diagnosis of hereditary spherocytosis (HS) in a newborn infant is generally made on the basis of a positive family history, spherocytes on blood film and Coombs-negative hemolytic jaundice of variable severity with an elevated mean corpuscular hemoglobin concentration (MCHC) and a low mean corpuscular volume (MCV). In general, sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) quantification of erythrocyte membrane proteins is not needed to make the clinical diagnosis of HS. However, we observed that a neonate with no family history of HS, but with abundant spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive variety of HS that generally has a severe clinical phenotype.
Authors:
H M Yaish; R D Christensen; A Agarwal
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of perinatology : official journal of the California Perinatal Association     Volume:  33     ISSN:  1476-5543     ISO Abbreviation:  J Perinatol     Publication Date:  2013 May 
Date Detail:
Created Date:  2013-04-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8501884     Medline TA:  J Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  404-6     Citation Subset:  IM    
Affiliation:
Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
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