Variations in both α-spectrin (SPTA1) and β-spectrin (SPTB) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis

Neonatology

Volumn 105, Issue 1, 2013, Pages 1-4

  Christensen, Robert D ^a   Nussenzveig, Roberto H ^b   Reading, N Scott ^b   Agarwal, Archana M ^b   Prchal, Josef T ^b,c   Yaish, Hassan M ^d  

^a Department of Women and Newborns Intermountain Healthcare ^*  (United States)

^b ARUP LABORATORIES   (United States)

^c Division of Hematology and Departments of Genetics and Pathology   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Elliptocytosis; Hemolysis; Jaundice; Neonate; Pyropoikilocytosis

Indexed keywords

COMORBIDITY; ELLIPTOCYTOSIS, HEREDITARY; FEMALE; GENETIC VARIATION; HUMANS; INFANT; JAUNDICE, NEONATAL; MALE; MUTATION; PEDIGREE; PHOTOTHERAPY; SPECTRIN; TREATMENT OUTCOME;

BETA SPECTRIN; BILIRUBIN; FODRIN; HEMOGLOBIN; SPECTRIN; UNCLASSIFIED DRUG;

ALLELE; ANEMIA; ARTICLE; BILIRUBIN BLOOD LEVEL; CASE REPORT; DNA POLYMORPHISM; ELLIPTOCYTOSIS; EXON; FAMILIAL DISEASE; FIRST DEGREE RELATIVE; GENE MUTATION; HEMATOCRIT; HETEROZYGOTE; HUMAN; HYPERBILIRUBINEMIA; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; NEWBORN; NEWBORN JAUNDICE; PHOTOTHERAPY; PRIORITY JOURNAL; RETICULOCYTE COUNT;

EID: 84886739356     PISSN: 16617800     EISSN: 16617819     Source Type: Journal    
DOI: 10.1159/000354884     Document Type: Article

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