Hemochromatosis

Although some people with hemochromatosis have no symptoms, most eventually do develop them. They include:

• Fatigue and weakness
• Joint pain
• Stomach pain
• Weight loss
• Loss of sexual desire
• Skin that takes on a bronze or grey hue

Hereditary or genetic hemochromatosis is caused by an inherited gene mutation that leads to increased iron absorption in the gut.

Secondary hemochromatosis can be caused by an accumulation of iron from blood transfusions, kidney dialysis, iron pills, certain types of anemia and cirrhosis (particularly when caused by alcohol).

In order to determine whether you have hemochromatosis, your doctor will review your family history and do a physical exam. You may undergo:

• A blood test to see how much iron is in your blood
• An MRI or liver biopsy to confirm the presence of iron and look for damage in your liver
• A blood test or cheek swabbing to determine whether you have the gene mutations that causes hereditary or genetic hemochromatosis

For patients with hereditary or genetic hemochromatosis, your doctor may recommend you have:

Regular phlebotomies, which involve removing the iron from the body by drawing blood. You may need a phlebotomy twice a week to once every few months, depending on the amount of iron in your body.

Chelation therapy, which involves taking a pill at home or receiving an injection at the doctor’s office. The medicine then binds to the iron in your body and is passed in your urine.