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Article

Siblings with severe pyruvate kinase deficiency and a complex genotype.

American journal of medical genetics. Part A - 1 Sept 2016

Christensen Robert D, Yaish Hassan M, Nussenzveig Roberto H, Agarwal Archana M

Abstract excerpt

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...

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Source

Identifiers

PMID: 27354418
DOI: 10.1002/ajmg.a.37828

Genes

PKLR
SPTB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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