Hemochromatosis

Hereditary hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. The excess iron is stored in your organs, especially your liver, heart and pancreas. The excess iron can poison these organs, leading to life-threatening conditions such as cancer, heart arrhythmias and cirrhosis. Many people inherit the faulty genes that cause hemochromatosis — it is the most common genetic disease in Caucasians. But only a minority of those with the genes develop serious problems. Hemochromatosis is more likely to be serious in men.
Signs and symptoms of hereditary hemochromatosis usually appear in midlife. Iron can be dropped to safe levels by regularly removing blood from your body.

Symptoms

Some people with hereditary hemochromatosis never have symptoms. Early signs and symptoms often are nonspecific, mimicking those of other common conditions. Common symptoms include:

  • Joint pain
  • Fatigue
  • Weakness

First signs and symptoms of the disease in men are often from organ damage. They include:

  • Joint pain
  • Diabetes
  • Loss of sex drive (libido)
  • Impotence
  • Heart failure

Although hereditary hemochromatosis is present at birth, most people don’t experience signs and symptoms until later in life — usually between the ages of 50 and 60 in men and after age 60 in women. Women are more likely to develop symptoms after menopause, when they no longer lose iron with menstruation and pregnancy.

Causes

Hereditary hemochromatosis is caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. The mutations that cause hereditary hemochromatosis are passed from parents to children. Iron plays an essential role in several body functions, including helping in the formation of blood. A peptide hormone called hepcidin, secreted by the liver, plays a key role in the body’s use of iron. It controls how much iron is absorbed by the intestines, how iron is used in various body processes and how it’s stored in various organs. In hemochromatosis, the normal role of hepcidin is disrupted and your body absorbs more iron that it needs. This excess iron is stored in the tissues of major organs, especially your liver. Too much iron is toxic to your body, and over a period of years, the stored iron can severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis, diabetes and heart failure. Though many people have faulty genes that cause hemochromatosis, only about 10 percent of them have iron overload to the degree that causes tissue and organ damage.

Visit our Center of Excellent CARE in Liver, Biliary and Pancreatic Diseases for more information.

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