Update on hereditary hemochromatosis and the HFE gene

Hereditary hemochromatosis (HHC) is the most common inherited single gene d isorder in people of northern European descent. Hereditary hemochromatosis is characterized by increased intestinal absorption of iron leading to its deposition into multiple organs. The classic description of HHC is bronze d iabetes in a patient with cirrhosis, Hereditary hemochromatosis is increasi ngly being diagnosed at an earlier, less symptomatic stage. Diagnosis is ba sed on an elevated fasting early morning transferrin saturation. Treatment is by phlebotomy, which, if initiated before the development of cirrhosis o r diabetes, is associated with a normal life expectancy, Recently, a gene a ssociated with HHC was discovered and named HFE, Two point mutations of thi s gene have been referred to as C282Y and H63D, Several US and European stu dies have found that 60% to 93% of patients with suspected HHC are homozygo us for C282Y, Positive results of HFE gene testing may eliminate the need f or a liver biopsy in selected cases. The greatest utility of HFE gene testi ng will likely be in screening family members of an identified proband and in helping to resolve ambiguous cases.