Which laboratory pattern is most typical of hereditary hemochromatosis?

Which laboratory pattern is most typical of hereditary hemochromatosis?

• A. Genetic testing for HFE gene is the primary diagnostic test.
• B. Normal LFTs with no signs of iron overload.
• C. Increased serum iron, increased transferrin saturation; normal/decreased TIBC; increased ferritin.
• D. Liver biopsy is not useful in diagnosis.

Answer: (C)

Hereditary hemochromatosis causes iron to accumulate in the body because of increased intestinal iron absorption from an HFE gene mutation. The typical laboratory pattern reflects that excess iron in circulation and storage: serum iron is high, transferrin saturation is elevated (since serum iron/TIBC > ~45%), and ferritin is high because it mirrors storage iron. TIBC is usually normal or decreased, since transferrin is becoming saturated. This combination—high iron, high transferrin saturation, normal/decreased TIBC, high ferritin—best matches the iron overload state characteristic of this condition. Early in disease, liver function tests may still be normal, and liver biopsy isn’t needed for diagnosis once this pattern and genetic confirmation are established.

Hereditary hemochromatosis causes iron to accumulate in the body because of increased intestinal iron absorption from an HFE gene mutation. The typical laboratory pattern reflects that excess iron in circulation and storage: serum iron is high, transferrin saturation is elevated (since serum iron/TIBC > ~45%), and ferritin is high because it mirrors storage iron. TIBC is usually normal or decreased, since transferrin is becoming saturated. This combination—high iron, high transferrin saturation, normal/decreased TIBC, high ferritin—best matches the iron overload state characteristic of this condition. Early in disease, liver function tests may still be normal, and liver biopsy isn’t needed for diagnosis once this pattern and genetic confirmation are established.