… , the mutation causes a clinically relevant phenotype only in … gene and Hfe(+/−) mice with a
homozygous R435X nonsense … HFE mutations are frequent but only cause a disease-related …

… axis that is caused by the homozygous HFE p.C282Y variant and … iron indices in different
HFE genotypes during treatment, … the underlying HFE genotype are often concomitant causes of …

… homozygosity, genetic testing for other HH-related variants is indicated if other hepatic or
hematological causes … Particular types of non-HFE-related HH have specific phenotypic signs …

… We defined these TS and SF phenotypes to be elevated: TS > … and we did not wish to produce
“false negative” results [32]. We … “ In the same meta-analysis, NAFLD risk in adults with p.…

… In hereditary hemochromatosis (HH), iron deposition and overload leads to oxidative … in at
least 15 different genes leading to iron overload phenotypes, although classic non-HFE HH is …

… similar phenotypes but caused by mutations in different genes involved in the regulation of
iron stores. Two allelic variants of the HFE … Homozygosity for this mutation causes sickle cell …

… Alu element mediated the homozygous deletion of HFE gene in a … ), causes a more severe
hemochromatosis phenotype in our … The following are the supplementary data related to this …

… by erythroid precursors leads to mitochondrial iron overload … C282Y in the HFE gene (the
typical genotype associated … mutations resulted in acquired phenotypes similar to CEP [93,94]. …

… similar manifestations to those of Caucasians, and identification of the Chinese FECH gene
mutations expands the FECH genotypic … delA), two silent homozygous nucleotide changes (c.…

… in the absence of alternative causes like excessive alcohol … between the presence of HFE
mutations and MASLD among … is highlighted for its broad phenotypic spectrum and potential …