Iron Disorder Hemochromatosis Diagnosis

A hemochromatosis diagnosis is an involved process requiring serum iron blood tests and measures of ferritin levels in the blood. If blood tests suggest hemochromatosis, a liver biopsy or genetic screening test can confirm the hemochromatosis diagnosis.

Family History and Hemochromatosis Diagnosis

A hemochromatosis diagnosis begins with a physical exam and detailed medical history. A list of possible hemochromatosis symptoms are compiled. If the presence of hemochromatosis disease is revealed during the diagnosis of other conditions, no symptoms may be present.

Physical evidence noted during a hemochromatosis diagnosis includes a triad of tell-tale symptoms. Diabetes, liver cirrhosis and bronze skin pigmentation are often seen in combination in cases of hemochromatosis, and indicate a possible hemocromatosis diagnosis when observed clinically.

Hemochromatosis is a hereditary disease, so a family history provides important clues during the diagnosis. A family history of arthritis and/or liver disease suggests the possibility of the disease.

Serum Iron and Ferritin Levels

If the initial examination suggests hemochromatosis, diagnosis continues with blood tests to measure serum iron and ferritin levels. Ferritin is the iron compound stored in the body’s cells.

Three types of blood test are used to diagnose hemochromatosis: serum ferritin tests, transferrin saturation tests and total iron binding capacity tests.

A transferrin saturation test measures the amount of iron bound to blood proteins. Normal serum iron levels range from twenty to fifty percent. If serum levels are higher than sixty percent in men, or higher than fifty percent in women, hemochromatosis is suspected.

A transferrin saturation test is often combined with a total iron binding capacity (TIBC) test, which measures how effectively serum iron is transported.

Should serum iron percentages indicate a possible hemochromatosis diagnosis, the next step is a serum ferritin test, which determines the amount of iron stored in the body’s tissues.

If a serum ferritin test reveals normal ferritin levels, a hemochromatosis diagnosis is unlikely. If other evidence indicates a high risk for hemochromatosis, routine screening every two years may be suggested.

If ferritin levels are high, further testing is required, either through genetic testing or by a liver biopsy.

Confirming a Hemochromatosis Diagnosis: Liver Biopsy

One of the standard methods for confirming a hemochromatosis diagnosis is a liver biopsy. Serum iron tests and ferritin levels can suggest hemochromatosis, but they can’t confirm the diagnosis.

A liver biopsy collects a small sample of liver tissue which is examined microscopically to determine how much iron is deposited in the liver and to assess any liver damage. Normally, very little or no iron can be seen in the liver. When excess iron is present, the risk of liver damage increases. Many patients with iron overload develop cirrhosis and liver failure.

In addition to a liver biopsy, genetic screening techniques can confirm a hemochromatosis diagnosis. Genetic screening can detect the presence of HFE mutations, which support the diagnosis of hemochromatosis.

Misdiagnosis of Hemochromatosis Disease

Hemochromatosis disease is a rare condition. Early symptoms of hemochromatosis are vague, and they occur with many other ailments. As such, hemochromatosis can be missed during diagnosis or it may be mistaken for other conditions.

Hemochromatosis can cause serious secondary conditions, and medical professionals may focus on the diagnosis and treatment of those conditions, missing the underlying hemochromatosis.

Genetic Screening and Hemochromatosis

Although the genetic defect that causes hemochromatosis is relatively common, general genetic screening for the mutation is not currently pursued. The genetic screening available for hemochromatosis diagnosis is expensive and not appropriate for widespread use.

However, this does not mean that genetic screening should not be employed for hemochromatosis. Individuals with high ferritin and serum irons levels may benefit from genetic screening, as may people experiencing severe, unexplained joint pain or chronic fatigue.

After a positive hemochromatosis diagnosis, siblings and close relatives of the person with hemochromatosis should consider genetic screening for the disease. Early detection and treatment of hemochromatosis can prevent many of the severe complications associated with the disease.

Finally, medical professionals should consider genetic screening for hemochromatosis when presented with cases of heart disease, impotence, diabetes and other potential complications of the disease. As noted above, hemochromatosis is often missed during diagnosis because it is masked by its own complications.


American Hemochromatosis Society. (nd). FAQs about hemochromatosis.

Heeney, M. M.,