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Article

Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV.

Blood cells, molecules & diseases - 1 Jan 2000

Speletas Matthaios, Kioumi Anna, Loules Gedeon, Hytiroglou Prodromos, Tsitouridis John, Christakis John, Germenis Anastasios E

Abstract excerpt

Mutations in the SLC40A1 gene result in a dominant genetic disorder [ferroportin disease; hereditary hemochromatosis type (HH) IV], characterized by iron overload with two different clinical manifestations, normal transferrin saturation with macrophage iron accumulation (the most prevalent type) or high transferrin saturation with hepatocyte iron accumulation (classical hemochromatosis phenotype). In previous...

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Identifiers

PMID: 17997113
DOI: 10.1016/j.bcmd.2007.09.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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