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Article

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

Human molecular genetics - 1 Sept 2003

Merryweather-Clarke Alison T, Cadet Estelle, Bomford Adrian, Capron Dominique, Viprakasit Vip, Miller Anne, McHugh Paddy J, Chapman Roger W, Pointon Jennifer J, Wimhurst Victoria L C, Livesey Karen J, Tanphaichitr Voravarn, Rochette Jacques, Robson Kathryn J H

Abstract excerpt

Haemochromatosis (HH) is a clinically and genetically heterogeneous disease caused by inappropriate iron absorption. Most HH patients are homozygous for the C282Y mutation in the HFE gene. However, penetrance of the C282Y mutation is incomplete, and other genetic factors may well affect the HH ph...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12915468
DOI: 10.1093/hmg/ddg225

Genes

HAMP
HFE
TFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12915468-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.PMID 12915468Read ↗

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