title: Siblings with severe pyruvate kinase deficiency and a complex genotype.
abstract: Siblings presented as neonates with severe jaundice and transfusion-dependent hemolytic anemia. Next-generation sequencing revealed both to have three heterozygous mutations in the gene encoding erythrocyte pyruvate kinase (PKLR), plus a heterozygous splice mutation in the beta-spectrin gene (SPTB). In addition, both have a different 5th mutation in a gene encoding other erythrocyte membrane proteins. The asymptomatic parents and all three asymptomatic siblings have different sets of these mutations. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.|Women and Newborns Clinical Program, Intermountain Healthcare, Salt Lake City, Utah.
authors.forename: Robert D
authors.initials: RD
authors.lastname: Christensen
authors.affiliation: Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.
authors.forename: Hassan M
authors.initials: HM
authors.lastname: Yaish
authors.affiliation: ARUP Laboratories, Salt Lake City, Utah.
authors.forename: Roberto H
authors.initials: RH
authors.lastname: Nussenzveig
authors.affiliation: ARUP Laboratories, Salt Lake City, Utah.|Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.
authors.forename: Archana M
authors.initials: AM
authors.lastname: Agarwal
mesh_terms: D015415:Biomarkers; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*; D035781:Siblings
chemical_list: D015415:Biomarkers; D011770:Pyruvate Kinase
keywords: AG-348; hemolysis; hereditary spherocytosis bilirubin; hyperbilirubinemia; jaundice; neonate; pyruvate kinase