Hemochromatosis

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Overview

Hemochromatosis, also called iron overload disease, is a progressive metabolic disorder in which iron builds up in cells of the body. High levels of iron can result in severe tissue damage and can lead to organ failure. In most cases, hemochromatosis is a genetic (hereditary) disorder.

Iron is a mineral found in a number of foods, including meat, fortified cereals, eggs, whole wheat products, almonds, and certain vegetables (e.g., asparagus, cauliflower, celery). It is the main component of hemoglobin, which is a substance in red blood cells that helps carry oxygen throughout the body. Iron plays a role in brain and muscle function, and helps the immune system work properly. It also helps prevent fatigue, weakness, irritability, and depression.

Normally, the body absorbs about 10% of the iron in the diet. In patients who have hemochromatosis, the intestines absorb too much iron (up to 30%) during digestion. Excess iron is stored in organs and tissues, including the liver, pancreas, heart, pituitary gland, and joints.

If left untreated, hemochromatosis can cause liver damage (e.g., cirrhosis), diabetes, arthritis, cardiomyopathy, and hypogonadism (may cause male infertility). The risk for heart failure, liver failure, and liver cancer increases as the disease progresses.

Types
The most common type is called primary hemochromatosis. This is an inherited disorder that develops as a result of a defective gene (called the HFE gene).

Other types of hemochromatosis include the following:

• Secondary hemochromatosis (usually affects people who have an underlying condition, such as anemia, or a history of alcohol abuse)
• Juvenile hemochromatosis (affects adolescents and young adults; causes liver and heart disease)
• Neonatal hemochromatosis (usually fatal condition that affects unborn babies and newborns; causes high levels of iron to build up in the liver)

Incidence and Prevalence
Hemochromatosis is one of the most common genetic (hereditary) diseases. Exact incidence of hemochromatosis is difficult to establish because many cases go undetected. However, it is estimated that approximately 10% of people are affected. The disorder is about 5 times more common in men, and men usually develop symptoms at a younger age than women.

Although the cause for hemochromatosis usually is congenital (i.e., present at birth), symptoms rarely develop before the age of 20. In about 70% of cases, symptoms of primary and secondary hemochromatosis develop between the ages of 40 and 60.

Prevalence of the hemochromatosis varies. In the United States, the disorder is more common in Caucasians of northern European descent (i.e., from Denmark, Finland, Sweden, Norway, Iceland, Germany, Great Britain).

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