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Article

Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases.

Blood cells, molecules & diseases - 1 Jan 2000

Zanella A, Bianchi P, Iurlo A, Boschetti C, Taioli E, Vercellati C, Zappa M, Fermo E, Tavazzi D, Sampietro M

Abstract excerpt

We evaluated the iron status and searched for mutations C282Y and H63D in the hereditary hemochromatosis gene (HFE) in 34 pyruvate kinase (PK)-deficient patients from 29 unrelated families. Nine had received multiple transfusions. Thirteen of the 25 nontransfused patients displayed increased serum ferritin concentration, in the absence of conditions known to raise this parameter. HFE genotype was abnormal in 9 of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11482880
DOI: 10.1006/bcmd.2001.0433

Genes

HFE

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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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