July is National Hemochromatosis Awareness Month

Hereditary hemochromatosis is a very common genetic condition that few people have heard of. People with hereditary hemochromatosis absorb and store too much iron from their food. Normally, iron is in short supply in most Americans’ diet; so many common foods such as orange juice actually have iron added to increase nutritional value. In most of us, any extra iron we consume passes through the body and is easily eliminated.

People with hereditary hemochromatosis are unable to get rid of excess iron. For them, too much of “a good thing” is very, very, bad! The excess iron builds up in their bodies. It is stored in the heart, liver, joints and the pancreas. In some people, the iron overload is so great that it literally turns their skin bronze. Many people are actually diagnosed in the late stage when they ask their doctors why their skin has developed a permanent tan!

Hereditary hemochromatosis is caused by two common defects in one specific gene. If an individual inherits that gene from their mother or father, they will be a “carrier” of hereditary hemochromatosis, but they will probably not experience serious organ damage. When someone inherits that same defective gene from both their mother and their father, they will be at serious risk for iron overload.

Even though the defective genes are present at birth, people with hereditary hemochromatosis usually do not develop symptoms until middle age. It can take that long for dangerous levels of iron to build up enough to cause obvious symptoms. Unfortunately, the symptoms they develop can be caused by other conditions as well. They include:

• Chronic fatigue
• Abdominal pain, arthritis
• High blood sugar levels
• Abnormal results on liver function blood tests, etc.

Over time, the iron overload can lead to other diseases including cirrhosis and liver failure, diabetes and heart rhythm problems or congestive heart failure. Hereditary hemochromatosis can kill. It is also one of the most common genetic conditions found in the United States and Canada, and it is treatable.

People of European descent are the most likely to carry this defective gene. It is seen much less frequently in other ethnic groups. Men develop symptoms more frequently and at an earlier age than women. Menstruation helps to remove some of the excess iron in women.

There are simple blood tests that help to diagnose hereditary hemochromatosis. Genetic testing is also available. Sometimes a liver biopsy is done, but this is less common now that genetic testing can be done. Because hereditary hemochromatosis runs in families, those who are diagnosed with it are encouraged to let family members know so they can undergo genetic testing. Routine screening for everyone is not recommended at this time, but it is extremely important for relatives of those with hereditary hemochromatosis.

Treatment for hereditary hemochromatosis sounds like something from the Middle Ages, but is actually easy to accomplish. Because iron is stored in the blood, removing a pint of blood on a regular basis will decrease the total amount of iron in the body. Excess iron in body organs will replace the iron in the blood lost through this “blood-letting” process. Essentially, people with hereditary hemochromatosis are advised to give blood on a regular basis until the excess iron has been depleted.

After iron levels are normal, they need to continue having a pint of blood removed from their body a few times each year. If most or all of the excess iron is removed before vital body organs are permanently damaged, they will have a normal life expectancy.

People with hereditary hemochromatosis do have to be careful with their diets. They should not take vitamins supplemented with iron or consume orange juice or other products that are “iron-enriched”. Use of alcohol is also discouraged since they may already have liver damage from iron overload. There is also a need to avoid shellfish, especially raw shellfish. But with these few exceptions, they can eat, drink, and live normal lives.

While there are no cure genetic defects yet, we can control their symptoms, and we can inform our loved ones if they are at risk. We might not be able to prevent serious iron overload in ourselves, but by sharing information about our genetic make-up, we can prevent iron overload in our children.

Always remember: prevention is power!

July 2007