Hemochromatosis

Early hemochromatosis often causes no symptoms; many people are found through routine blood work or family screening. When symptoms appear, they are often general: fatigue, joint aches (classically in the knuckles), and abdominal discomfort. Later signs can include a bronze or gray skin tone, diabetes, heart problems, or evidence of liver disease. Because these changes develop slowly, the diagnosis is easy to miss without testing.

Diagnosis starts with blood tests that measure iron, usually ferritin and transferrin saturation. If these are elevated, a genetic test can confirm the inherited form. Your doctor may also check liver blood tests and use imaging — such as a specialized MRI or an elastography scan — to estimate iron buildup and look for scarring. Because the condition is inherited, close relatives of a person with hemochromatosis are usually advised to be tested as well.

Treatment is straightforward: blood is removed at regular intervals, a process called therapeutic phlebotomy that feels much like donating blood. Each session removes iron along with the blood, and over months the body's iron stores come back toward normal. After that, maintenance sessions a few times a year usually keep iron in a safe range.

People with hemochromatosis are generally advised to avoid iron and high-dose vitamin C supplements, limit alcohol, and avoid eating raw shellfish, which carries a particular infection risk when body iron is high.

See a doctor if blood work shows high iron or ferritin, if a close relative has hemochromatosis, or if you have unexplained fatigue, joint pain, and abnormal liver tests together. A gastroenterologist can confirm the diagnosis, check whether the liver has been affected, and set up a treatment and monitoring plan.