Diagnosis of Hemochromatosis

Hemochromatosis, or iron overload disease, often is difficult to diagnose in its early stages. However, early diagnosis is very important to reduce the risk for serious complications and organ damage.

Screening (e.g., blood tests) to detect the disorder before symptoms develop may be recommended for siblings, parents, children, and other relatives of patients who have hemochromatosis, and patients who have unexplained symptoms, such as severe fatigue, joint pain, and elevated liver enzymes.

Diagnosis usually involves taking a patient and family medical history, and performing a complete physical examination and laboratory tests (e.g., blood tests, imaging tests).

A medical history includes information about the patient's intake of alcohol, iron, and vitamin C (large doses can increase iron absorption); a history of symptoms (e.g., joint pain, fatigue); and any family history of hemochromatosis. During physical examination, the liver, pancreas, heart, and joints are evaluated.

Blood tests can be used to detect high levels of iron. These tests include blood (serum) iron and transferrin (substance in blood that binds and transports iron) saturation and serum ferritin (form of iron that is stored in cells of the liver, spleen, bone marrow and other organs).

Because hemochromatosis often affects the liver first, a liver biopsy may be performed to help diagnose the disorder. In this test, a sample of tissue is surgically removed and examined under a microscope. Liver biopsy can be used to measure iron levels in the organ and detect liver damage.

Other diagnostic tests that may be performed include the following:

  • Fasting blood glucose test (to diagnose diabetes)
  • Imaging tests (e.g., CT scan, MRI scan; used to detect organ damage)
  • Liver function tests

Publication Review By: Stanley J. Swierzewski, III, M.D.

Published: 28 Feb 2008

Last Modified: 18 Sep 2015