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Article

Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Clinics (Sao Paulo, Brazil) - 1 Jan 2009

Bittencourt Paulo Lisboa, Marin Maria Lúcia Carnevale, Couto Cláudia Alves, Cançado Eduardo Luiz Rachid, Carrilho Flair José, Goldberg Anna Carla

Abstract excerpt

BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2) and ferroportin 1 (SCL40A1). AIMS:...

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Identifiers

PMID: 19759876
DOI: 10.1590/S1807-59322009000900003
PMCID: PMC2745139

Genes

HFE

Variants

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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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