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Article

Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man.

European journal of haematology - 1 Mar 2011

Del-Castillo-Rueda Alejandro, Moreno-Carralero María-Isabel, Alvarez-Sala-Walther Luis-Antonio, Cuadrado-Grande Nuria, Enríquez-de-Salamanca Rafael, Méndez Manuel, Morán-Jiménez María-Josefa

Abstract excerpt

The most common form of hemochromatosis is caused by mutations in the HFE gene. Rare forms of the disease are caused by mutations in other genes. We present a patient with hyperferritinemia and iron overload, and facial flushing. Magnetic resonance imaging was performed to measure hepatic iron overload, and a molecular study of the genes involved in iron metabolism was undertaken. The iron overload was similar to...

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Identifiers

PMID: 21175851
DOI: 10.1111/j.1600-0609.2010.01565.x

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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