Hereditary hemochromatosis (HH ... The variable expressivity of HFE-HH is related to sex and dietary factors; however, other mutations, and environmental factors such as steatosis and viral ...

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 ...

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 ...