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Testing for Genetic Disorders

Related Genetic Tests

Hemochromatosis

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Price: $199.00

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HEMOCHROMATOSIS

Diagnosing Hemochromatosis

Although hemochromatosis is common, the disease is often underdiagnosed. This may be in part because symptoms occur in mid-adult life, mimicking many other adult-onset disorders such as arthritis, diabetes, and heart disease. Another reason may be that the textbook symptoms doctors learn (liver disease, diabetes, and bronzed skin) may not be the first symptoms that appear in people with hemochromatosis.

Diagnostic Tests
Liver Biopsy

Diagnostic Tests

This disorder is easily detected through tests for blood iron levels and by looking for mutations in the hemochromatosis gene (HFE). As a result, more doctors are diagnosing people with the disease before they have symptoms. Doctors usually perform screening tests before moving on to genetic testing or liver biopsy.

Screening Tests for Hemochromatosis	What the Test Measures
Transferrin saturation (related to the total iron-binding capacity, or TIBC)	The percentage of transferrin (a protein that carries iron in the blood) that is currently carrying iron.
Serum ferritin	An indirect measure of the amount of iron stored in your liver.

Tranferrin Saturation Test

The transferrin saturation test determines how much iron is bound to the protein that carries iron in the blood. A fasting transferrin saturation above 45 percent (or above 35 percent in premenopausal women) on at least two occasions is considered a sign of iron overload. However, factors in addition to hemochromatosis can cause iron overload. Values of greater than 45 percent are considered suggestive of hemochromatosis and warrant further evaluation.

Serum Ferritin Level Test

The serum ferritin test is an indirect measure of iron storage in the liver. The normal range of serum ferritin levels for men and postmenopausal women is up to 300 ug/L. For premenopausal women, the normal range is up to 200ug/L.

People with advanced hemochromatosis may have serum ferritin levels as high as 15,000 ug/L. However, other factors besides hemochromatosis can cause high serum ferritin levels, including liver disease, infection, cancer, heart disease, AIDS, metabolic disorders, and inflammatory conditions such as arthritis.

If individuals have elevated serum ferritin levels or fasting transferrin saturation levels, genetic testing for hemochromatosis can help identify the reason for the increase in iron storage.

More on: Genetic Testing for Hemochromatosis

Liver Biopsy

Doctors often perform a liver biopsy (the removal of a small piece of the liver) in people who have high serum ferritin levels (e.g., over 1000ug/L) in order to determine the extent of liver damage and to distinguish between hemochromatosis and other liver diseases. A liver biopsy can also provide a clearer picture of the amount of iron that is being stored in the liver. This is known as hepatic iron concentration.

Before the discovery of genetic testing for hemochromatosis, a liver biopsy with measurements of hepatic iron was considered the “gold standard” for diagnosing hemochromatosis. A liver biopsy is now rarely needed to make the diagnosis, and is usually only used for people with apparent iron overload who have a negative genetic test result and no other family history of hemochromatosis.

However, a liver biopsy is the only test that can tell whether cirrhosis is present, which is one complication that affects the lifespan of someone with hemochromatosis, since it increases the risk for liver cancer. A liver biopsy should be recommended for anyone with hemochromatosis who has a ferritin level over 1000 ug/L or has a ferritin level under 1000 ug/L with abnormal liver function test results.

Outside of these conditions the likelihood of cirrhosis is so low it does not usually justify the risk of the procedure.