Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry - PubMed
7 hours ago
- #iron overload
- #hemochromatosis
- #ferroportin disease
- Study characterizes ferroportin disease (FD) and SLC40A1-related hemochromatosis (SLC40A1-HC) using data from the EASL non-HFE registry.
- FD and SLC40A1-HC are caused by SLC40A1 variants, with FD showing low to normal transferrin saturation (TSAT) and iron accumulation in Kupffer cells.
- The study included 95 registry patients and 363 from literature, comparing them with 603 HFE-HC patients.
- 65.5% of SLC40A1 variant carriers had FD, presenting younger and more often female than SLC40A1-HC.
- SLC40A1 variants led to higher hepatic and splenic iron concentrations compared to HFE-HC.
- Phenotypic variability was high; genotype-phenotype correlation explained little variation.
- Variants affecting ferroportin's metal binding site were linked to high TSAT.
- SLC40A1-HC phenotype (TSAT >45%) had higher fibrosis risk but similar life expectancy to HFE-HC.
- 73.2% of SLC40A1 variant carriers received phlebotomies, with no impact on life expectancy.
- Elevated TSAT and hepatic iron in SLC40A1-HC suggest these factors drive disease progression.