Hemochromatosis

Causes

There are two types of hemochromatosis:

• Primary hemochromatosis is a genetic disorder passed down through families. It occurs at birth. People with this condition absorb too much iron through their digestive tract. Iron builds up in the body, especially the liver. You are more likely to get this disease if someone else in your family has or had the condition.
• Secondary (acquired) hemochromatosis is due to other blood-related disorders (such as thalassemia or certain anemias) or many blood transfusions. Sometimes it occurs in people with long-term alcoholism and other health conditions. 

Hemochromatosis affects more men than women. It is particularly common in Caucasians of western European descent.

Symptoms

• Abdominal pain
• Fatigue
• Generalized darkening of skin color (often referred to as bronzing)
• Joint pain
• Lack of energy
• Loss of body hair
• Loss of sexual desire
• Weight loss
• Weakness

Exams and Tests

The doctor or nurse will perform a physical exam. This may show liver and spleen swelling, and skin color changes.

Blood tests may help make the diagnosis. Tests may include:

• Ferritin level
• Iron level
• Percentage of transferrin saturation (high)

Other tests may include:

• Blood sugar (glucose) level
• Alpha fetoprotein
• Echocardiogram to examine the heart's function
• Electrocardiogram (ECG) to look at the electrical activity of the heart
• Imaging tests such as CT scans, MRI, and ultrasound
• Liver function tests

The condition may be confirmed and treated with a liver biopsy or phlebotomy, a procedure that removes blood to lower the amount of iron in the body.

If a genetic defect is confirmed, other blood tests can be used to determine if other family members are at risk for iron overload.

Treatment

The goal of treatment is to remove excess iron from the body and treat any organ damage.

A procedure called phlebotomy is the best method for removing excess iron from the body.

• One-half liter of blood is removed from the body each week until the body iron level is normal. This may take many months or even years to do.
• After that, the procedure may be done less often to maintain normal iron levels.

How often you need this procedure depends on your symptoms and your levels of hemoglobin and serum ferritin, and how much iron you take in your diet.

Testosterone hormone therapy can help improve the loss of sexual desire and changes in secondary sexual characteristics. Diabetes, arthritis, liver failure, and heart failure should be treated as appropriate.

If you are diagnosed with hemochromatosis, you should follow a special diet to reduce how much iron is absorbed from your digestive tract. Your doctor or nurse will recommend:

• Do not alcohol, especially if you have liver damage
• Do not take iron pills or vitamins containing iron
• Do not use iron cookware
• Do not eat raw seafood (cooked is fine)
• Do not eat foods fortified with iron, such as 100% iron breakfast cereals

Outlook (Prognosis)

Untreated, iron overload can lead to liver damage. 

Extra iron may also build up in other areas of the body, including the thyroid gland, testicles, pancreas, pituitary gland, heart, or joints. Early treatment can help prevent complications such as liver disease, heart disease, arthritis or diabetes.

How well you do depends on the amount of organ damage. Some organ damage can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy.

Possible Complications

Complications include:

• Liver cirrhosis
• Liver failure
• Liver cancer

The disease may lead to the development of:

• Arthritis
• Diabetes
• Heart problems
• Increased risk for certain bacterial infections
• Testicular atrophy
• Skin coloring changes

When to Contact a Medical Professional

Call your health care provider if symptoms of hemochromatosis develop.

Call for an appointment with your health care provider (for screening) if a family member has been diagnosed with hemochromatosis.

Prevention

Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.

Alternative Names

References

Bacon BR. Iron overload (hemochromatosis) In: Goldman L, Ausiello D, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 219.

Update Date: 3/4/2012

Updated by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.