What is hemochromatosis?
Hemochromatosis is a disease that causes iron deposits to build up throughout the body. The buildup of iron can severely damage or destroy organs. If the disease is detected early, it can be treated and the damage prevented.
Hemochromatosis is also called iron overload disease.

How does it occur?
Hemochromatosis is caused by an inherited tendency to store too much iron.

• The slow buildup of iron in the body especially affects the liver, heart, pancreas, and hormone levels.
  
• Liver cells become scarred and fibrous. The liver helps you digest food and process medicines, toxins, and other waste products. Damage to the liver makes it hard for your liver to function normally. Scarring of the liver is called cirrhosis.
  
• Your heart muscle can become damaged, leading to heart problems, including heart failure.
  The pancreas, which produces insulin, becomes damaged. The pancreas may make less insulin than your body needs. When you have too little insulin, the level of sugar in your blood rises and you may become diabetic.
  
• Abnormal levels of thyroid hormone and sex hormone can cause fatigue, infertility, and erectile dysfunction (trouble having and keeping an erection).

About 3 of every 1,000 people in the US have hemochromatosis, especially those of English, French, Swedish, or Portuguese descent. Men are much more likely to have symptoms than women. Before menopause women are protected somewhat from the disease because they lose quite a bit of iron during menstruation and childbirth.

Some people do not have the disease but are carriers. Being a carrier means that you can pass the gene for the disease on to your children.

What are the symptoms?
You may not have any symptoms for years. Symptoms usually appear in middle age. They include:

• Fatigue (the most common symptom)
  
• Joint pains (especially in the fingers, hips, and knees)
  
• A change in your skin color to gray or brown
  
• Episodes of rapid heart rate
  
• Erectile dysfunction
  
• Irregular or no menstrual periods, and trouble getting pregnant
  
• Symptoms of diabetes, such as frequent urination and excessive thirst
  
• Symptoms of cirrhosis of the liver, including nausea, loss of appetite, swelling of the abdomen, abdominal pain, and vomiting of blood.

How is it diagnosed?
Hemochromatosis can be diagnosed from blood tests. These tests can detect the problem before symptoms appear.

• DNA Analysis for hereditary hemochromatosis
• Blood tests to measure ferritin
• Blood tests to measure iron and total iron binding capacity (TIBC)
• Blood tests to measure aspartate aminotransferase
• Blood tests to measure glucose
• Blood tests to measure thyroxine-stimulating hormone (TSH)
• Blood tests to evaluate thryroid and liver function
• A complete blood count (CBC)

Private MD Lab Services offers three tests to help diagnose hemochromatosis: Hereditary Hemochromatosis, DNA Analysis, Basic Hemochromatosis Screen and Comprehensive Hemochromatosis Screen.

For people who have no symptoms and no known family history of hemochromatosis, the disease is usually discovered through blood tests done for some other reason. When these blood tests show signs of excess iron or liver damage, specific blood tests for iron overload disease can be done.

If blood tests for hemochromatosis are positive, you may have a liver biopsy. When you have a liver biopsy your health care provider numbs the skin over the area of the liver (by the lower right rib cage). He or she then inserts a hollow needle and removes some liver tissue. The tissue is examined for abnormal stores of iron and signs of liver damage.

How is it treated?
The treatment is very simple: excess iron is removed from your body by removing blood. When your level of iron is high, you may need to have a pint of blood removed each week until your iron level is normal. Your iron levels can be checked with blood tests. These tests will determine if, when, and how much blood needs to be taken. When blood removal has lowered your iron levels to normal, you will probably need to repeat the treatment every 3 to 4 months to maintain normal levels.

If your liver or other organs are damaged, problems resulting from the damage will also be treated. You will likely need to continue taking medicine for problems such as:

• Diabetes
• Thyroid problems
• Erectile dysfunction
• Heart disease.

Joint pain can be treated with anti-inflammatory medicines.

Once liver scarring has begun, it may progress to serious liver disease and liver failure. A liver transplant may be an option in this case. An important part of treatment is to avoid alcohol and medicines that can worsen liver damage.

How long do the effects last?
Once you start having symptoms, they usually continue even though you are having treatments to remove excess iron. This means you will need to continue treatment for heart, thyroid, liver, erectile dysfunction, and joint problems.

If you do not have any symptoms of hemochromatosis, you will have regular checks of your iron levels so blood can be removed when your levels get too high. This will prevent symptoms and organ damage.

How can I help prevent hemochromatosis?
If you have a family history of hemochromatosis, you should have genetic testing or blood tests to see if you have the disease or may be a carrier. Early and continued treatment, including regular blood tests, can prevent your iron levels from becoming too high. This will prevent organ damage and allow you to have a normal life.

Serum Iron Studies

What are serum iron studies?
Serum iron studies are blood tests that:

• Measure the amount of iron in your blood
• Measure your body's ability to use iron.

There are many different types of iron studies. The 3 most common tests are discussed here:

• Serum iron
• Total iron binding capacity
• Ferritin

These are the tests usually used to look for problems with how your body uses iron.

Why is this test done?
Iron studies are usually ordered as part of a screening program to diagnose diseases before they become serious. The iron studies may help:

• Find out why you are anemic
• Diagnose some forms of autoimmune diseases or cancers.
• Detect a problem such as hemochromatosis (a genetic disease that causes a dangerous buildup of iron in the body).

How do I prepare for this test?

• For 3 days before the tests avoid iron and vitamin C supplements and juices with vitamin C
• You should fast overnight before you have this test. This means you should not eat or drink anything after midnight the night before your test. If you need to take medicines, you may take them with a small amount of water on the morning of your test.
• Talk to your health care provider if you have any questions.

How is the test done?
A small amount of blood is taken from your arm with a needle. The blood is collected in tubes and sent to a lab. Having this test will take just a few minutes of your time. There is no risk of getting AIDS, hepatitis, or any other blood-borne disease from this test.

How will I get the test results?
Ask your health care provider when and how you will get the results of your test.

What do the test results mean?
The normal range for each of the three tests may vary from lab to lab. Normal ranges are usually shown next to your results in the lab report. Listed below are common normal ranges for each test.

Serum iron
For men and women the normal range is 20 to 150 ng/mL.

Total iron binding capacity (TIBC)
For men and women the normal range is 250 to 450 ng/mL.

Ferritin

• Males: 20 to 300 nanograms per milliliter (ng/mL)
• Females: 20 to 120 ng/mL

Results of these iron studies tests may mean the following:

• A low serum iron level and low serum ferritin level may be caused by iron deficiency anemia
• A high TIBC and low serum iron level may be caused by iron deficiency anemia, pregnancy, and chronic blood loss
• A high serum iron level may be caused by too much iron in your diet, vitamin B6 therapy, or some anemias caused by an inability to use iron
• A high ferritin level and a normal serum iron level might indicate liver disease from infection or alcoholism, chronic inflammatory disease (such as arthritis or asthma), hypothyroidism, and type 2 diabetes
• A high ferritin level combined with a high serum iron level may be a sign of hemosiderosis (an accumulation of iron in some of your tissues)
• A low TIBC and high serum iron may be a sign of sideroblastic anemia (a condition that prevents your red blood cells from using iron)
• A high serum ferritin level, high serum iron, and low TIBC may be caused by hemochromatosis

What if my test results are not normal?
Test results are only one part of a larger picture that takes into account your medical history and current health. Sometimes a test needs to be repeated to check the first result. Talk to your health care provider about your results and ask questions.

If your test results are abnormal, ask your health care provider:

• If you need additional tests
• What you can do to work toward a normal value
• When you need to be tested again.

Back to top