What Is Hemochromatosis (Iron Overload)?

Iron is an important mineral we all need for good health. Having too little iron can cause health problems, but too much iron can also be harmful. 

Hemochromatosis is when the body has too much iron — or iron overload. This excess iron can build up in different organs and disrupt their normal function. The good news is that hemochromatosis can be treated, which can prevent serious complications.

Hemochromatosis has different causes. Here, we’ll focus on hereditary hemochromatosis — the type that is genetic. 

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Keep reading to find out more about the causes, symptoms, and treatment of hemochromatosis.

What causes hemochromatosis? 

Hemochromatosis happens when your body has difficulty controlling iron levels. Usually, a hormone made in the liver called hepcidin tells the body how much iron to absorb. Higher hepcidin levels tell the body to absorb less iron because it already has enough. Lower levels of hepcidin increase iron absorption. People with hemochromatosis have a deficiency in hepcidin or in the way the body processes iron. This leads to increased iron levels and iron overload.

There are two kinds of hemochromatosis: primary (hereditary) and secondary. 

Primary hemochromatosis

Primary, or hereditary, hemochromatosis is caused by changes in certain genes passed down through families. In the U.S., about 1 million people have hereditary hemochromatosis. 

The most common genetic change, or mutation — called C282Y — happens in the HFE gene. It’s possible to have one or two copies of this mutated gene. If you have two copies (one from each parent), you are more likely to develop symptoms of hemochromatosis. If you have only one, you’ll likely have no symptoms, or only mild symptoms. 

Other genetic mutations can also cause hemochromatosis, but they are less common. 

Secondary hemochromatosis

Secondary hemochromatosis is iron overload from causes other than genetic changes. 

Nongenetic causes of iron overload include:

• Frequent blood transfusions: Certain types of anemia require blood transfusions. This could lead to iron overload. Examples include thalassemias, sickle cell disease, and aplastic anemia, but not iron-deficiency anemia. 

• Intravenous (IV) iron: Frequent doses of IV iron can lead to iron overload. This can occur in people with kidney failure on dialysis who need IV iron.

• Liver disease: Different types of liver disease can cause the body to absorb too much iron. Examples include alcoholic liver disease, nonalcoholic fatty liver disease, and chronic viral hepatitis.

What factors increase your risk for iron overload?

Your genetics increase your risk of hereditary hemochromatosis. It is more common in people from,  or whose ancestors are from, Northern European countries. About 1 in 300 non-Hispanic, white Americans have hereditary hemochromatosis. It’s most common in Ireland, France, and Denmark. Black, Asian, and Hispanic people are less likely to have these genetic changes compared to Caucasians. 

Secondary hemochromatosis happens in people with certain medical conditions, such as chronic liver disease. It can also happen in those who need frequent blood transfusions or IV iron infusions. 

Under normal conditions, your body does an excellent job of regulating iron levels. Getting too much iron from your diet or from iron supplements is unlikely to cause iron overload in a healthy person.

What organs are affected by hemochromatosis?

Hemochromatosis affects many body systems and organs, including the:

• Skin

• Brain 

• Heart

• Liver

• Bones and joints

• Thyroid

• Pancreas

The symptoms of hemochromatosis depend on the body systems and organs involved.

What are the symptoms of hemochromatosis?

People with hereditary hemochromatosis can have a range of symptoms. 

Some symptoms — like fatigue, weakness, and weight loss — are nonspecific. This means they can happen in other diseases, too. These symptoms alone can’t make the diagnosis of hemochromatosis. For this reason, making the diagnosis can be difficult, especially early on.

Besides fatigue, weakness, and weight loss, signs and symptoms of iron overload include:

• Joint pain and swelling

• Pain in the right upper abdomen

• Darkening of the skin (making it look metallic or bronze)

• Low libido

• Erectile dysfunction

• Absence of a menstrual period  

Some people with hemochromatosis may not have any symptoms at first. This is because it takes many years for iron overload to occur. In men, symptoms usually start in the 40s or 50s. In women, symptoms appear a little later (after menopause). This is because iron loss through menstruation and pregnancy helps offset iron overload.

The good news is that blood tests can diagnose hemochromatosis before symptoms start. These blood tests measure iron levels. Genetic testing through blood work can check for mutations seen in hereditary hemochromatosis.

How serious is iron overload?

Hemochromatosis can be a serious condition with various complications. This happens when iron builds up in important organs and causes damage to organ tissue. Complications of hemochromatosis include:

• Liver cirrhosis

• Hepatocellular carcinoma (liver cancer)

• Abnormal heart rhythms

• Heart failure

• Osteoporosis

• Hypothyroidism

• Diabetes

• Arthritis 

• Higher risk of certain infections

• Decreased cognition

• Abnormal movement (like tremor)

Hemochromatosis is often diagnosed early, before a large amount of iron overload occurs. So, these complications are not seen in everyone. It can take many decades for enough iron to build up in the organs to cause serious problems.

How do you treat hemochromatosis?

The treatment for hereditary hemochromatosis is called therapeutic phlebotomy. This means removing blood from the body to prevent or treat iron overload. The goal of treatment is to prevent organ damage, or improve organ function when iron overload has already happened.

Therapeutic phlebotomy is like donating blood. A needle is placed into a vein in your arm to remove one unit (about one pint) of blood. The frequency and amount of blood removed depends on the person and the amount of iron overload. Usually, phlebotomy is done about once a week until blood work shows a ferritin level of 50-100 mg/dL. Ferritin is a protein in the blood that stores iron. Higher levels mean you are storing more iron. Once the ferritin level goes down, phlebotomy is done three to four times per year.

You don’t usually need to change your diet as part of treatment for hereditary hemochromatosis, but you shouldn’t take iron or vitamin C supplements. You may need to limit alcohol, because this can worsen liver disease in people with hemochromatosis.

Another way of treating hemochromatosis is with medications called iron chelators. These can treat secondary hemochromatosis and hereditary hemochromatosis when phlebotomy doesn’t work. Iron chelators are given in pill form or by an injection and reduce the amount of iron in the body. Examples include deferoxamine (Desferal), deferiprone (Ferriprox), and deferasirox (Exjade, Jadenu). 

What’s the prognosis like for someone with hemochromatosis?

The prognosis depends on whether there are complications and how much iron overload there is when treatment starts. Diagnosing and treating hemochromatosis early helps prevent more serious problems. Without treatment, hemochromatosis can lead to serious complications that can be life-threatening. 

Treatment with therapeutic phlebotomy can help people with hereditary hemochromatosis live longer. It improves some of the symptoms like fatigue and joint pain as well as abnormal liver tests and heart function. But it’s unlikely to improve or reverse diabetes, cirrhosis, or arthritis once they have already happened.

Can hemochromatosis be cured?

No, but it can be managed. If you have symptoms or a family history of hereditary hemochromatosis, talk to your healthcare provider about getting tested. Experts recommend screening if you have a first-degree relative (like a parent or a sibling) with hemochromatosis.  

Why trust our experts?

Written by:

Sarah Pozniak, MD

Sarah Pozniak, MD, has 9 years of experience since graduating medical school (6 since completing residency). She is a board-certified general internal medicine physician and has practiced as a primary care physician in both Utah and Washington, D.C. Currently, she cares for patients with chronic illnesses such as diabetes and high blood pressure using telemedicine as part of a virtual care program.

Edited by:

Mandy Armitage, MD

Mandy Armitage, MD, has combined her interests in clinical medicine with her passion for education and content development for many years. She served as medical director for the health technology companies HealthLoop (now Get Well) and Doximity.

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