… Despite this high prevalence, the mutation causes a clinically relevant phenotype only in a
… that C282Y HFE mutations are frequent but only cause a disease-related phenotype in a …

… excludes other causes of hepcidin suppression which are not related to … C282Y/p.H63D
compound heterozygote individuals is … H63D compound heterozygous HFE genotypes for further …

… , and only a minority of these develop phenotypic HH. In … C282Y/p.H63D mutation. ALT
could be retrieved in 30% of … analysis but could also have biological causes. For instance, the …

… iron indices in different HFE genotypes during treatment, … C282Y/p.H63D, corroborating
current guidelines that … the underlying HFE genotype are often concomitant causes of increased …

… "a rare if not unique event that produced an ancestral HLA marking that … C282Y/p.H63D
compound heterozygotes, and one was a … in prevalences of conditions related to iron overload at …

… Dysregulation of systemic iron homeostasis leads to either an … some patients with
hemochromatosis phenotypes are HFE p.… This is similar to our results, as we also found the …

… C282Y homozygosity in HFE, a purely phenotypic case definition is also not acceptable …
C282Y/p.H63D compound heterozygous subjects have a distinct iron overload phenotype (mild …

… 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.…

… It also leads to edema and development of progressive … , leading to the change of its
phenotype and initiation of vein wall … C282Y/p.H63D), but none of the studied haplotypes showed …

… and absence of a homozygous C282Y mutation, the patient … non-HFE-related forms share
the HFE HC phenotype due to … Increasing the iron exportation properties of ferroportin leads to …