What is Hemochromatosis?

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We recently received a question regarding the condition hemochromatosis. This disease actually affects more than 1 million Americans. It's a metabolic disorder also referred to as "iron overload disease."

It's one of the most common genetic disorders in the U.S. and often an inherited condition where the body absorbs and stores too much iron. This iron builds up in several organs, especially in the liver and can cause serious damage without treatment. If left alone for a long period of time, this disease can lead some organs to fail. 

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Iron is an essential nutrient the body needs. It can be found in many foods such as:

  • Red meat
  • Pork
  • Poultry
  • Seafood
  • Beans
  • Dark green leafy vegetables, such as spinach
  • Dried fruit, such as raisins and apricots
  • Iron-fortified cereals, breads and pastas

In order to meet the body's requirements, healthy individuals absorb about 10% of iron contained in food consumed.

Normally, the body contains 3-4 grams of iron and this total amount is regulated by our system. On a daily basis, the body's iron decreases by 1 mg from sweat and cells that shed from the skin and inner lining of the intestines. Menstruation also causes women to lose iron contents. A normal adult absorbs 1 mg of iron daily from food to replace the lost iron, so there is no excess of iron in the body. As iron losses increase, more iron is absorbed from food. 

How is hemochromatosis diagnosed?

Your physician will order specific blood tests to diagnose hemochromatosis. The blood tests that help identify the condition are for serum iron, total iron binding capacity and transferrin. These are considered effective screening tests. In addition, your doctor may want to order another test called serum ferritin level, which will be elevated in pateitns with hemochromatosis. 

As the results come back, if the tests are high, a genetic test can further identify the condition, detecting genetic mutations in the HFE gene which we spoke about that makes this condition hereditary. 

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Since hemochromatosis can damage the liver, it may be necessary to have a liver biopsy performed. Excess iron is often associated with patients who have alcoholic liver disease or chronic viral hepatitis. A liver biopsy is the only procedure to determine if patients with a pre-condition of the liver have an iron overload. 

Genetic Root of Hemochromatosis

Most people don't understand the genetic roots of this disease. Genetic or "hereditary" hemochromatosis is connected to a defect in a gene called HFE. This gene regulates the amount of iron absorbed from food. Even though it's present at birth, symptoms often occur later in adulthood. If a person inherits one gene, they are a carrier of the disease but most likely won't develop it. If they inherit genes from both parents, they mostly likely will.

While hemochromatosis is present at birth, symptoms rarely appear before adulthood. A person who inherits the defective gene from both parents may develop hemochromatosis. A person who inherits the defective gene from only one parent is a carrier for the disease but usually does not develop it.

There is also what is called "Juvenile Hemochromatosis" which are not caused by the HFE gene. The cause is actually unknown to this day and leads to severe iron overload, liver and heart disease in those between the ages 15-30.

Hemochromatosis Symptoms

Symptoms tend to appear in men between the ages of 30-50 and in women over 50. 

  • joint pain
  • fatigue
  • lack of energy
  • abdominal pain
  • loss of sex drive
  • heart issues
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If the disease is not detected early and treated, iron may accumulate in body tissues and may lead to serious health issues such as:

  • arthritis
  • liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
  • damage to the pancreas, possibly causing diabetes
  • heart abnormalities, such as irregular heart rhythms or congestive heart failure
  • impotence
  • early menopause
  • abnormal pigmentation of the skin, making it look gray or bronze
  • pituitary damage
  • damage to the adrenal glan

Hemochromatosis Treatments

The first step in treating this condition is to rid the body of the excess iron it has accumulated. This is performed through a process called a phlebotomy, defined as removing the blood the same way it is drawn from donors during a blood drive. Each patient's iron overload may differ but most of the time a pint of blood will be removed once or twice a week for several months to a year. The goal always being to decrease iron levels in the blood to normal levels.

Once optimal levels are reached, maintenance therapy is the next step. This involves giving a pint of blood every 2-4 months for life. Some people may need it more often. Patients should get an annual blood test to monitor this.

A great resource to learn more about this disease is Hemochromatosis.org from the Iron Disorders Institute.