Can you name the most common genetic disorder in the United States? If you said hemochromatosis, you’re right. But since it’s also the most underdiagnosed genetic disease, you probably guessed wrong.
About one in 200 people have the disorder, in which the digestive tract absorbs too much iron. The excess gets stored in organs and joints. Left untreated, iron overload can do irreparable damage to the heart, liver and endocrine system.
Because the body has no way of getting rid of extra iron except through blood loss, the primary treatment for hemochromatosis is phlebotomy—a procedure in which a unit of blood is removed each week over a certain period.
The trouble is, hemochromatosis is hard to detect because the earliest signs, which usually appear between ages 40 and 60, are easily mistaken for symptoms of other illnesses. They include abdominal pain, joint pain, fatigue, skin discoloration, impotence, infertility, diabetes and loss of bone density.
Unfortunately, if hemochromatosis isn’t caught before it has already caused illnesses such as cirrhosis, diabetes, arthritis and an enlarged heart, treatment is less clear cut.
First, report any unexplained symptoms to your healthcare provider. Men should be especially vigilant since they’re more likely to suffer consequences of the disease. Women born with hemochromatosis are less likely to suffer its effects later in life because of the blood lost through menstruation.
Ask your healthcare provider about getting a blood test to screen for the disorder. If you do have hemochromatosis, your family members should be tested for the disease, too.