Definition

Hemochromatosis is a condition in which the body builds up too much iron. Two types of hemochromatosis are:

Secondary Hemochromatosis

This type results from treatments or diseases that cause iron to build up in the body. This may include:

• Dietary iron overload
• Anemias such as thalassemia
• Chronic liver disease

If found, early HH is easily treated. Untreated HH can lead to severe organ damage. Excess iron builds up in the cells of the liver, heart, pancreas, joints, and pituitary gland. This leads to diseases such as cirrhosis of the liver, liver cancer, diabetes, coronary artery disease, and joint disease.

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Causes    ▲

HH is caused by a genetic defect. It is passed down through autosomal recessive inheritance. This means a child who inherits 2 genes, 1 from each parent, is very likely to develop HH. However, not all people who have 2 copies of the gene develop signs and symptoms of HH.

Risk Factors    ▲

Hemochromatosis is usually present in men between 30-50 years old and in women over 50 years old (postmenopausal). Factors that may increase the chances of HH:

• Having family members with hemochromatosis
• Ancestry from western or northern Europe
• Alcohol use disorder, which can lead to liver disease and secondary hemochromatosis

Symptoms    ▲

Many people have no symptoms when they are diagnosed. However when they occur, symptoms may include:

• Joint pain
• Fatigue, lack of energy
• Abdominal pain
• Loss of sex drive

Complications may include:

• Heart problems
• Damage to the adrenal gland and resulting adrenal insufficiency

If the disease is not treated early, iron may build up in body tissues. This may eventually lead to serious problems such as:

• Arthritis
• Liver disease, including an enlarged liver, cirrhosis, liver cancer, or liver failure
• Damage to the pancreas, possibly causing diabetes
• Heart abnormalities, such as irregular heart rhythms or heart failure
• Erectile dysfunction
• Early menopause
• Abnormal pigmentation of the skin (may appear gray or bronze) or the eyes
• Thyroid deficiency
• Damage to the adrenal gland

Diagnosis    ▲

You will be asked about your symptoms and medical history. A physical exam will be done.

Tests may include:

• Blood tests
• Genetic tests
• Liver biopsy
• CT scan
• MRI scan
• Ultrasound

Treatment    ▲

Treatment is simple, inexpensive, and safe.

Prevention    ▲

To help reduce the chances of hemochromatosis:

• Brothers and sisters of people who have hemochromatosis should have their blood tested. This will help identify those who have the disease or are carriers.
• Parents, children, and other close relatives of people who have the disease should consider testing.

A genetic counselor can help you review your family history, determine your specific risks, and review the appropriate testing.