American Board of Family Medicine (ABFM) Practice Exam

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What is the initial screening test for hemochromatosis?

  1. Testing for the HFE gene

  2. Serum transaminases

  3. Ferritin and transferrin saturation

  4. A CBC and a serum iron level

The correct answer is: Ferritin and transferrin saturation

The initial screening test for hemochromatosis focuses on determining the body's iron stores and iron levels, which are critical in diagnosing this condition. The measurement of ferritin and transferrin saturation provides a clear indication of how much iron is stored in the body and how well it is being transported in the blood. Ferritin is a protein that stores iron, and elevated levels of ferritin usually indicate excess iron storage commonly seen in hemochromatosis. Transferrin saturation reflects the percentage of transferrin (the main iron transport protein in the blood) that is saturated with iron. Elevated transferrin saturation levels can indicate iron overload, which is characteristic of hemochromatosis. In summary, screening using ferritin and transferrin saturation is recognized as the most effective initial approach for identifying hemochromatosis due to the direct correlation to iron metabolism and storage in the body. Other tests, while helpful in further evaluating liver function or genetic predisposition, would not serve as the primary screening strategy.