Format

Send to

Choose Destination
Am J Med Genet A. 2016 Sep;170(9):2449-52. doi: 10.1002/ajmg.a.37828. Epub 2016 Jun 29.

Siblings with severe pyruvate kinase deficiency and a complex genotype.

Author information

1
Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.
2
Women and Newborns Clinical Program, Intermountain Healthcare, Salt Lake City, Utah.
3
ARUP Laboratories, Salt Lake City, Utah.
4
Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.

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.

KEYWORDS:

AG-348; hemolysis; hereditary spherocytosis bilirubin; hyperbilirubinemia; jaundice; neonate; pyruvate kinase

PMID:
27354418
DOI:
10.1002/ajmg.a.37828
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center