Characterization of ferroportin disease and SLC40A1-related hemochromatosis

In this study, the authors comprehensively characterize iron overload disorders caused by SLC40A1 (ferroportin) mutations, demonstrating a broad and heterogeneous spectrum ranging from classical ferroportin disease to SLC40A1-related hemochromatosis.

Back to overview

Phenotypic variability is only partly explained by genotype, and compared with HFE hemochromatosis, patients show greater hepatic and splenic iron accumulation. Patients with SLC40A1-related hemochromatosis (TSAT >45%) have a higher prevalence of chronic liver disease, suggesting that elevated TSAT and hepatic iron drive disease progression and can guide risk stratification. These findings support a more individualized approach to risk stratification and management in SLC40A1-associated disease.

The full publication is available here.