What is Hemochromatosis?

Hemochromatosis is a genetic disorder that causes the liver to absorb too much iron from your daily food intake. Since iron is a necessary component in everyday life, the body stores it in the organs. In the case of hemochromatosis, too much iron builds up in the liver, pancreas, heart, and other organs.

When too much iron builds up in the organs can cause serious side effects, including the development of conditions that are life-threatening.

Even though hemochromatosis is a genetic, inherited disorder, only a very small percentage of people who carry the gene actually develop the disorder. The signs and symptoms of this disorder do not usually appear until the person is of middle age.

What are the Symptoms of Hemochromatosis?

The symptoms of hemochromatosis can vary from person to person. The symptoms of hemochromatosis tend to hide behind symptoms of other existing disorders. However, upon careful medical examination, the symptoms can be isolated.

Early symptoms include

  • Pain in the joints
  • Pain in the abdomen
  • Unexplained fatigue
  • Unexplained weakness

Later symptoms include

  • Decrease or complete loss of sex drive
  • Development of diabetes
  • Impotence
  • The development of heart failure
  • The development of liver failure

Even though hemochromatosis is genetic and present at birth, the symptoms do not appear until later in life. Usually, the symptoms appear after the age of 50 in men, and after menopause in women. The reason women do not show symptoms as early as men do is because they lose a significant amount of iron build up during menstruation. After menstruation ceases, the body will build up extra iron because it cannot escape through menstruation.

Hemochromatosis Causes

Hemochromatosis is a disorder caused by a mutation of the gene controlling how your body absorbs and processes iron from food. Hemochromatosis is passed from parents to children and is fairly common. The gene mutation that causes hemochromatosis is called HFE; there are two varieties of the HFE gene that can occur C282Y and H63D. In order to reveal if a person carries this mutation without them exhibiting symptoms, genetic testing is recommended.

  • Those who inherit two of these abnormal genes can develop hemochromatosis and they can also pass these mutated genes on to their children. However, not every person with this gene actually develops hemochromatosis or suffers from iron overload.
  • Those who inherit a single abnormal gene will likely not develop hemochromatosis. However, they are carriers of the mutation and can pass it on to their children. Still, they won’t develop the disease unless another mutated gene is passed on from a second parent.

Some factors that might increase the risk of contracting hemochromatosis include:

  • A person’s family history, including having a first-degree relative, like a sibling or parent who has hemochromatosis, makes you likely to develop the disease.
  • Those of Northern European descent are statistically more prone to developing hereditary hemochromatosis than those from different ethnic backgrounds. Additionally, hemochromatosis is much less common among Hispanics, African-Americans, and Asian-Americans.

How is Hemochromatosis Treated?

The most common treatment for hemochromatosis is a form of blood removal. In this treatment, doctors safely remove a predetermined amount of blood from you on a regular basis. Because the blood must be removed in order for the patient to have a healthy life, there are a lot of donation centers who have obtained certification to collect the blood for transfusion purposes.

The goal is to remove just the right amount of blood to relieve symptoms. Your doctor will provide a schedule that is created surrounding your specific situation. This schedule may change every so often depending on your body’s response.

Hemochromatosis Prevention

Currently, there are no methods for technically preventing hemochromatosis. However, early diagnosis and swift treatment can help prevent complications that are a result of hemochromatosis.

Those who suspect they might develop hemochromatosis are advised to avoid:

  • Iron and vitamin C supplements
  • Alcohol
  • Raw seafood

Research is currently being conducted in order to determine the way in which the body processes and stores iron, the exact role that genes play in iron absorption, and the mechanism allowing an abundance of iron to do damage to tissue and organs.