Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.

doi:10.1016/j.jhep.2025.10.016

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Article

Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.

Journal of hepatology - 1 Apr 2026

Troppmair Maria Rosina, Ricci Andrea, Scarlini Stefania, Pelucchi Sara, Porto Graça, Busti Fabiana, Sanchez Mayka, Weissensteiner Hansi, Schönherr Sebastian, Forer Lukas, Kronenberg Florian, Pammer Lorenz Michael, Kremser Christian, Henninger Benjamin, Junior Lima Santos Paulo Caleb, An Peng, Wang Fudi, De Gobbi Marco, Unal Sule, Noriyuki Yamakawa, Ishikawa Tetsuya, Drakesmith Hal, Tilg Herbert, Bardou-Jacquet Edouard, Girelli Domenico, Piperno Alberto, Pietrangelo Antonello, Corradini Elena, Schaefer Benedikt, Zoller Heinz

Abstract excerpt

BACKGROUND & AIMS: Pathogenic variants in the cellular iron exporter ferroportin (SLC40A1) cause hepatic and splenic iron overload. Low to normal transferrin saturation (TSAT) and iron accumulation in Kupffer cells with high splenic iron distinguish ferroportin disease (FD) from SLC40A1-related hemochromatosis (SLC40A1-HC), which are both caused by variants in SLC40A1. The aim of our study was to describe...

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PMID: 41855270
DOI: 10.1016/j.jhep.2025.10.016

Genes

SLC40A1
HFE
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