PMID- 23624969
OWN - NLM
STAT- MEDLINE
DCOM- 20131031
LR  - 20220331
IS  - 1476-5543 (Electronic)
IS  - 0743-8346 (Linking)
VI  - 33
IP  - 5
DP  - 2013 May
TI  - 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.
PG  - 404-6
LID - 10.1038/jp.2012.67 [doi]
AB  - 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.
FAU - Yaish, H M
AU  - Yaish HM
AD  - Division of Hematology/Oncology, Department of Pediatrics, University of Utah 
      School of Medicine, Salt Lake City, UT, USA.
FAU - Christensen, R D
AU  - Christensen RD
FAU - Agarwal, A
AU  - Agarwal A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Perinatol
JT  - Journal of perinatology : official journal of the California Perinatal 
      Association
JID - 8501884
RN  - 12634-43-4 (Spectrin)
SB  - IM
MH  - Coombs Test
MH  - Erythrocyte Indices
MH  - Humans
MH  - Infant, Newborn
MH  - Jaundice/*blood
MH  - Male
MH  - Spectrin/*deficiency
MH  - Spherocytes
MH  - Spherocytosis, Hereditary/blood/*etiology
EDAT- 2013/04/30 06:00
MHDA- 2013/11/01 06:00
CRDT- 2013/04/30 06:00
PHST- 2013/04/30 06:00 [entrez]
PHST- 2013/04/30 06:00 [pubmed]
PHST- 2013/11/01 06:00 [medline]
AID - jp201267 [pii]
AID - 10.1038/jp.2012.67 [doi]
PST - ppublish
SO  - J Perinatol. 2013 May;33(5):404-6. doi: 10.1038/jp.2012.67.