Abstract

A 79-year-old woman presented for her general medical evaluation. Physical examination revealed increased facial hair and skin darkening (Figure A). Laboratory studies revealed alanine aminotransferase 62 U/L (7–45), aspartate aminotransferase 81 U/L (8–43), and ferritin 854 μg/L (11–307). Gross examination showed reddish brown urine (Figure B) that transitioned to black after being exposed to sunlight for 2 weeks (Figure C). HFE gene analysis identified heterozygous mutations in C282Y and H63D, the 2 most common genes implicated in hereditary hemochromatosis.

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