Hemochromatosis 

Hereditary hemochromatosis is caused by a genetic mutation in a gene called HFE. Every person has two copies of the gene – one from each parent.  About 70 percent of those who inherit two abnormal genes develop hemochromatosis. People who inherit just one abnormal gene don’t develop symptoms but risk passing the disease to their children.

One of two common mutations in the HFE gene is found in 85 percent of people who have hereditary hemochromatosis.

Symptoms of hereditary hemochromatosis often appear in midlife. Early symptoms may be nonspecific and often include joint pain, fatigue and weakness. 

Hemochromatosis symptoms often occur earlier in men than women, and men may experience more severe symptoms of the disease related to organ damage, such as diabetes, loss of sex drive or impotence or heart failure.

Hemochromatosis can be difficult to diagnose, because early symptoms, such joint stiffness and fatigue, are like those of many forms of arthritis. If hemochromatosis is suspected, often due to family history, two blood tests can help make the diagnosis – one that measures the amount of iron bound to a protein in the blood (called transferrin) that carries iron to tissues and the other that measures the amount of iron stored in the liver (ferritin).

Doctors may also order other laboratory or imaging tests to confirm the diagnosis and check for problems caused by the disease.

Treatment for hemochromatosis involves removing blood from the body, as is done when donating blood, to reduce iron levels. Initially blood may be drawn once or twice a week. Once iron levels are normal, draws can usually be reduced to every three to four months.  

For people who have medical problems that make it inadvisable to remove blood, doctors may recommend an oral or injected medication that causes the body to expel iron through the urine or stool in a process called chelation.

Returning iron to normal levels relieves the fatigue and most symptoms of hemochromatosis; it also prevents complications from occurring, but it can’t repair the damage already done.

People with hemochromatosis can reduce the risk of complications though careful attention to their diet and the supplements they take. This includes avoiding vitamin C supplements, which increase absorption of iron; avoiding alcohol, which increases liver damage risk; and avoiding raw shellfish, which is more likely to cause infection in people with hemochromatosis.