Abstract
A man in his mid-30s was found to have a markedly elevated ferritin level (>2500 μg/L) and a serum transferrin saturation of 95%. A liver biopsy was performed. A Perls iron stain demonstrated severe iron overload, with iron deposited in the hepatocytes. The patient then underwent genetic testing, which identified homozygous C282Y mutations in the HFE gene.
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