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Article

Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders.

Advances in experimental medicine and biology - 1 Jan 2025

Pietrangelo Antonello

Abstract excerpt

Beyond the classic HFE-hemochromatosis, several genetic iron-loading disorders arise from mutations in genes regulating iron homeostasis, such as TFR2, HAMP, HJV, and the SLC40A1 (ferroportin) gene, as well as those involved in iron transport and mitochondrial function. These disorders lead to systemic or localized iron overload, resulting in complications such as liver disease, cardiomyopathy, endocrine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40603789
DOI: 10.1007/978-3-031-92033-2_10

Genes

HFE
HAMP
HJV
SLC40A1
TFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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