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Hereditary hemochromatosis (HH) usually is diagnosed during evaluation of otherwise unexplained elevations in serum transaminase levels (aspartate aminotransferase [AST] and alanine aminotransferase [ALT]) in people of northern European descent. Although the liver is the most commonly affected organ clinically, the disease also has endocrine, arthritic, and cardiac manifestations. This guideline offers a concise updated review of HH.
Serum transferrin saturation and serum ferritin remain first-line tests in people with suspected HH; patients with abnormal results should undergo genetic testing.
C282Y and H63D are the most common mutations on genetic testing. …