Hemochromatosis (called iron storage disease) occurs when the body absorbs too much iron from foods and other sources such as vitamins containing iron. This disease causes extra iron to gradually build up in the body’s tissues and organs, a term called iron overload. If this iron buildup is not treated, it can, over many years, damage the body’s organs.
Signs & Symptoms
Hemochromatosis can have a variety of symptoms and symptoms may be different for men and women. Hemochromatosis can be hard to identify because early symptoms are similar to those of many other common diseases.
Although most people reach middle-age before they have symptoms of hemochromatosis, some people may have symptoms at a younger age. The symptoms depend on which organs are being affected by the iron buildup.
- Fatigue (feeling very tired)
- Weight loss
- Abdominal (belly) pain
- Joint pain
As iron builds up in the body organs, hemochromatosis may also produce the following symptoms:
- Loss of menstrual periods or early menopause
- Loss of sex drive (libido) or impotence
- Loss of body hair
- Shortness of breath
- Although not a physical symptom, another possible indication of hemochromatosis is having an elevated liver enzyme test.
As the disease progresses, hemochromatosis may cause the following more serious problems:
- Liver problems, such as cirrhosis (or scarring of the liver) and liver cancer
- High blood sugar and diabetes
- Abdominal (belly) pain that does not go away
- Severe fatigue (feeling extremely tired and having a lack of energy)
- Heart problems (such as a heart beat that is not regular)
- Heart failure (such as the heart not pumping blood as well as it did previously)
- Gray-colored or bronze-colored skin
Risk Factors & Causes
Although hemochromatosis can have other causes, in the United States the disease is usually caused by a genetic disorder. A person who inherits the defective gene from both parents may develop hemochromatosis. The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. Because people inherit genes from their parents, this type of the disease is also called hereditary hemochromatosis.
The iron overload associated with hemochromatosis can be diagnosed through two blood tests. The tests measure how much iron is in the body. People can have these tests done in their doctor’s office.
If hemochromatosis is found early, treatment can slow its progress and prevent serious problems. However, if the disease is not diagnosed and treated early, it can cause more serious problems. These problems include arthritis, heart problems, and liver problems (such as cirrhosis and liver cancer).
Treatment consists of taking blood from the arm, much like giving blood. The treatment is safe and effective. Patients can expect a normal life span if they start treatment before organ damage has begun.
Who is Affected
In the United States more than one million people have the gene mutation that can cause hemochromatosis. This gene mutation is most common among people whose ancestors came from Europe. Not all people with this gene mutation develop iron overload, and not all people with iron overload develop the signs and symptoms of hemochromatosis.
- Centers for Disease Control and Prevention
National Center on Birth Defects and Developmental Disabilities
Division of Blood Disorders
1600 Clifton Road
Atlanta, GA 30333
TTY: (888) 232-6348
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