Once a proband case of HFE associated HHC is identified who should be screened and by what method?
All first-degree relatives of the patient should be screened for the disease using fasting transferrin saturation and testing for C282Y and H63D HFE mutations. Fasting transferrin saturation >45% and ferritin >200 μg/L suggest HHC in an individual homozygous for the risk alleles. Liver biopsy is not necessary for diagnosis unless severe fibrosis is suspected (serum ferritin >1000 μg/L) or the diagnosis is in doubt, as in the case of individuals heterozygous for the C282Y mutation with abnormal iron indices or liver function tests. New hepatic magnetic resonance imaging techniques to quantitate hepatic iron content may replace the need for liver biopsy. Screening can be deferred until the second decade of life.
