• Joint pain
• Fatigue
• Lack of energy
• Weight loss
• Generalized darkening of skin color (often referred to as bronzing)
• Abdominal pain
• Loss of sexual desire
• Testicular atrophy
• Loss of body hair
• Weakness
• Heart problems
• Symptoms related to the onset of diabetes

A physical examination shows an enlarged liver, enlarged spleen, and pigmentation changes in the skin.

If hemochromatosis is suspected, blood tests may help make the diagnosis. These include:

• Elevated serum iron
• Elevated TIBC (total iron binding capacity)
• Elevated serum ferritin
• Elevated percentage of transferrin saturation

This diagnosis may be confirmed with a liver biopsy or by systemic removal of iron through blood removal (quantitative phlebotomy).

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

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