Haemochromatosis, also spelled hemochromatosis, the most common form of iron overload disease, is an inherited disorder that causes the body to absorb and store too much iron. The extra iron builds up in organs and damages them. Without treatment, the disease can cause these organs to fail.

Iron is an essential nutrient found in many foods. The greatest amount is found in red meat and iron-fortified bread and cereal. In the body, iron becomes part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues.  Healthy people usually absorb about 10 percent of the iron contained in the food they eat to meet the body needs. People with hemochromatosis absorb more than the body needs. The body has no natural way to rid itself of the excess iron, so it is stored in body tissues, especially the liver, heart, and pancreas.

Hereditary hemochromatosis is affects about 5 people in 1,000 (0.5 percent) of the U.S. Caucasian population.Hemochromatosis is less common in African Americans, Asian Americans, Hispanic Americans, and American Indians.  Although both men and women can inherit the gene defect, men are about five times more likely to be diagnosed with the effects of hereditary hemochromatosis than women. Men also tend to develop problems from the excess iron at a younger age.

Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. Symptoms tend to occur in men between the ages of 30 and 50 and in women over age 50. However, many people have no symptoms when they are diagnosed. If the disease is not detected early and treated, iron may accumulate in body tissues and may eventually lead to serious problems 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
  
• thyroid deficiency
  
• damage to the adrenal gland

Blood tests can determine whether the amount of iron stored in the body is too high. The transferrin saturation test determines how much iron is bound to the protein that carries iron in the blood. The total iron binding capacity (TIBC) test measures how well your blood can transport iron. The serum ferritin test shows the level of iron in the liver. If either of these tests shows higher than normal levels of iron in the body, doctors can order a special blood test to detect the HFE mutation, which will help confirm the diagnosis. (If the mutation is not present, hereditary hemochromatosis is not the reason for the iron buildup, and the doctor will look for other causes.) A liver biopsy, in which a tiny piece of liver tissue is removed and examined under a microscope, may be needed. It will show how much iron has accumulated in the liver and whether the liver is damaged.

Hemochromatosis is often undiagnosed and untreated. It is considered rare and doctors may not think to test for it. The initial symptoms can be diverse and vague and can mimic the symptoms of many other diseases. Also, doctors may focus on the conditions caused by hemochromatosis—arthritis, liver disease, heart disease, or diabetes—rather than on the underlying iron overload. However, if the iron overload caused by hemochromatosis is diagnosed and treated before organ damage has occurred, a person can live a normal, healthy life.

Treatment is simple, inexpensive, and safe. The first step is to rid the body of excess iron. The process is called phlebotomy, which means removing blood the same way it is drawn from donors at blood banks. Depending on how severe the iron overload is, a pint of blood will be taken once or twice a week for several months to a year, and occasionally longer. Blood ferritin levels will be tested periodically to monitor iron levels. The goal is to bring blood ferritin levels to the low end of normal and keep them there. Depending on the lab, that means 25 to 50 micrograms of ferritin per liter of serum. Depending on the amount of iron overload at diagnosis, reaching normal levels can take many phlebotomies.

Once iron levels return to normal, maintenance therapy, which involves giving a pint of blood every 2 to 4 months for life, begins. Some people may need it more often. An annual blood ferritin test will help determine how often blood should be removed.

If you think you may have this disease I suggest you check these pages for more information and contact your family doctor.

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