Exams and Tests for Hemochromatosis

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A physical examination shows an enlarged liver, enlarged spleen, and skin color changes.

Blood tests may help make the diagnosis. These include:

• Serum iron (high)
• TIBC (reduced)
• Serum ferritin (high)
• Percentage of transferrin saturation (high)

The diagnosis may be confirmed with a liver biopsy or phlebotomy, a procedure that removes blood to lower the amount of iron in the body.

Recently, genetic defects have been found in some families with a history of hemochromatosis. Blood tests can be used to look for these genetic changes and confirm the diagnosis of hemochromatosis, as well as determine who may be at high risk of developing the disease.

Other tests may include liver function tests (LFT), CT scan, MRI, ultrasound, biphasic helical CAT scan, alpha fetoprotein, PIVKA-II, glucose, hepatitis screening, and ECG.