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Article

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.

Annals of hematology - 1 Mar 2009

Mendes Ana Isabel, Ferro Ana, Martins Rute, Picanço Isabel, Gomes Susana, Cerqueira Rute, Correia Manuel, Nunes António Robalo, Esteves Jorge, Fleming Rita, Faustino Paula

Abstract excerpt

The most frequent genotype associated with Hereditary hemochromatosis is the homozygosity for C282Y, a common HFE mutation. However, other mutations in HFE, transferrin receptor 2 (TFR2), hemojuvelin (HJV) and hepcidin (HAMP) genes, have also been reported in association with this pathology. A mu...

Read the complete abstract on PubMed

Topics

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Share to Hemochromatosis
Share to Hemochromatosis Protein
Share to Histocompatibility Antigens Class I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iron Metabolism Disorders

Share to Iron Overload

Share to Portugal

Share to Receptors, Transferrin

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 18762941
DOI: 10.1007/s00277-008-0572-y

Genes

HFE
HAMP
HJV
TFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18762941-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.PMID 18762941Read ↗

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