Why You Need to Check for Hemochromatosis and Iron Overload

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Hereditary hemochromatosis is the most common genetic disease amongst Caucasians. It causes the body to absorb and store too much iron. It gets its name from “hemo” for blood and “chroma” for colour, referring to the characteristic bronze skin tone caused by iron overload. However, as many sufferers do not exhibit the bronze colouration, skin tone is not a reliable indicator for this disease.

Hemochromatosis causes excess iron storage in several different organs of the body including the liver, pancreas, endocrine glands, heart, skin, joints, and intestinal lining. This build-up of iron can lead to serious complications, is associated with hepatic cirrhosis, primary liver cancer, diabetes mellitus, other endocrinopathy, arthropathy, and cardiomyopathy and with reduced longevity.

It is believed that hemochromatosis causes about 5% of cirrhosis cases. These patients who have hereditary hemochromatosis induced cirrhosis have a 20% chance of developing diabetes. A number of complications can result from cirrhosis and it can ultimately lead to developing liver cancer, liver failure or death. People with hereditary hemochromatosis who also have chronic hepatitis or are alcoholics may have greater complications and worse liver disease.

Hemochromatosis can be managed when it detected early but unfortunately, by the time symptoms become evident, severe organ damage has already occurred. As it considered rare, hemochromatosis is often un-diagnosed and untreated because doctors may not think to test for it. As symptoms develop only after tissue injury, it is important that diagnosis be made as early as possible.

Patients with early hemochromatosis have no symptoms and are unaware of their condition. Many people have no symptoms when they are diagnosed.  The initial symptoms can be diverse, vague and mimic the symptoms of many other diseases.

Symptoms of hemochromatosis begin to occur when the body has stored 20 grams or more of iron, which can take 4 to 6 decades. Symptoms are often seen in men between the ages of 30 and 50 and in women over 50, although some people may develop problems by age 20. Since females lose iron through menstrual blood loss, they develop organ damage from iron accumulation 15 to 20 years later than men on average.

Iron build-up is often present and silently causing problems in men, women, adolescents and in rare cases children long before symptoms occur. Therefore, hereditary hemochromatosis should not be considered a disease only of older people or men.

Juvenile hemochromatosis and neonatal hemochromatosis are two forms of the disease that are not caused by an HFE defect. The juvenile form leads to severe iron overload and liver and heart disease in adolescents and young adults between the ages of 15 and 30, and the neonatal form causes rapid iron build-up in a baby’s liver that can lead to death.

Treatment for hereditary hemochromatosis is routine, but life-long. Treatment is by removing blood (phlebotomy) from the patient in order to lower the level of iron. There is an initial de-ironing phase, where the patients have frequent phlebotomy until the iron stores are depleted. In this initial stage, half a litre of blood may be removed from the body each week. When the iron levels are normal, treatment may only be several times a year. Treatment, if begun in time, will return the patient to a normal life span and reverse most if not all of the symptoms.

Hemochromatosis is a worldwide genetic disorder that occurs especially in populations of Northern European origins with about 1 in 10 people carrying the defective gene. With 1 in 10 of the population being a carrier, and 1 in every 200 to 300 being a sufferer, a significant percentage of the population is at risk. If you have a family history of the disease, it is important that you get tested. It is important to diagnose hemochromatosis early as it can be treated easily.  Fortunately with increased awareness this is now happening.