Definition | Causes | Risk Factors | Symptoms | Diagnosis | Treatment | Prevention

Definition

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

Primary or Hereditary Hemochromatosis (HH)

This type is caused by inherited genes and includes juvenile hemochromatosis. These genes cause the stomach and intestines to absorb too much iron. It is the most common genetic disorder in the US.

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.

The Liver

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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:

Treatment

Treatment is simple, inexpensive, and safe.

Blood Removal

The first step is to rid the body of excess iron by removing blood. The schedule will depend on how severe the iron overload is. A pint of blood will be taken once or twice a week for several months to a year (or possibly longer). When iron levels return to normal, maintenance therapy is given. A pint of blood is given every 2-4 months for life. Some people may need it more often. Females may need to increase their schedule after menopause.

Lifestyle Changes

Lifestyle changes include steps to reduce the amount of iron you consume and/or absorb, and to help protect your liver:

  • Do not eat red meat or raw shellfish.
  • Do not take vitamin C supplements.
  • Do not take iron supplements.
  • Avoid alcohol.

Treating Associated Medical Conditions

You may need to be treated for other conditions that have developed. Hemochromatosis can cause:

  • Diabetes
  • Liver cirrhosis
  • Heart failure
  • Enlargement of the spleen

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.