although there is incomplete biochemical and clinical penetrance and variable phenotypic expression of the HFE mutation in hereditary hemochromatosis. An elevated SF <1000 µg/l is associated with ...

The term hemochromatosis is commonly used as synonymous with HFE-associated genetic iron overload but several rarer causes of an identical clinicopathological syndrome have been described in ...

Although not statistically significant, this difference reflects higher iron stores in carriers of HFE C282Y in the cohort than in patients lacking the C282Y allele (Table 6). Table 6 Estimation ...

Mutations in the HFE gene, such as the C282Y variant, disrupt this balance, leading to hereditary hemochromatosis, a ...

Loss-of-function mutations of the HFE gene lead to an autosomal recessive iron-overload disorder referred to as hereditary hemochromatosis (HH). Excessive hepatic iron accumulation is observed in ...