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Article

Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.

Blood cells, molecules & diseases - 1 Jan 2000

Percy M J, van Wijk R, Haggan S, Savage G A, Boyd K, Dempsey S, Hamilton J, Kettle P, Kyle A, Shepherd C W, van Solinge W W, Lappin T R J, McMullin M F

Abstract excerpt

A common cause of hereditary nonspherocytic hemolytic anemia is pyruvate kinase deficiency, which is associated with lifelong chronic hemolysis. Pyruvate kinase deficiency has a worldwide distribution with a higher prevalence in the Caucasian population, and especially in Europe and North America. It is inherited in an autosomal fashion and over 180 different mutations have been described. Investigation of...

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Source

Identifiers

PMID: 17574881
DOI: 10.1016/j.bcmd.2007.05.001

Genes

PKLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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