About one quarter of older men who were homozygous for the HFE C282Y mutation had clinically evident disease. Most clinical cases of hereditary hemochromatosis occur in people who are homozygous ...

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 ...

HFET Test: HFET which is known as Hereditary Hemochromatosis, HFE Variant Analysis, offers a comprehensive assessment by identifying the two prevalent disease-causing mutations, C282Y and H63D.

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 ...

"Our findings really shake the boat of conventional thinking about hemochromatosis ... clinical disease have mutations in the HFE gene, but most people who have those mutations never develop the ...