Which test is typically used first when hereditary hemochromatosis is suspected?

• A. Serum ferritin
• B. Transferrin saturation
• C. Genetic testing
• D. Liver biopsy

Answer: (B)

Transferrin saturation is the first-line screening test for suspected hereditary hemochromatosis because it directly reflects how much iron is being carried by transferrin in the blood. In this condition, a genetic defect causes increased intestinal iron absorption, so iron loading happens early and transferrin gets highly saturated. A high transferrin saturation is an early, sensitive indicator that prompts confirmatory genetic testing for HFE mutations.

Serum ferritin, while useful for assessing iron stores and monitoring treatment, can be elevated for many reasons besides iron overload—inflammation, infection, liver disease—so it isn’t as reliable for initial screening. Liver biopsy is invasive and used to assess liver damage or iron deposition when noninvasive tests are inconclusive, not as the first test.