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Article

Genetic and clinical heterogeneity of ferroportin disease.

British journal of haematology - 1 Dec 2005

Cremonesi L, Cemonesi Laura, Forni Gian Luca, Soriani Nadia, Lamagna Martina, Fermo Isabella, Daraio Filomena, Galli Anna, Pietra Daniela, Malcovati Luca, Ferrari Maurizio, Camaschella Clara, Cazzola Mario

Abstract excerpt

Ferroportin is encoded by the SLC40A1 gene and mediates iron export from cells by interacting with hepcidin. SLC40A1 gene mutations are associated with an autosomal type of genetic iron overload described as haemochromatosis type 4, or HFE4 (Online Mendelian Inheritance in Man number 606069), or ferroportin disease. We report three families with this condition caused by novel SLC40A1 mutations. Denaturing...

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Identifiers

PMID: 16351644
DOI: 10.1111/j.1365-2141.2005.05815.x

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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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