Hemochromatosis

Hemochromatosis is a medical condition that causes your body to store extra iron. Over time, this iron builds up in your organs and can cause serious health problems. 

At Banner Health, we are dedicated to helping you understand and manage conditions like hemochromatosis. Read on to learn more about the condition and treatment options.

What is hemochromatosis?

Hemochromatosis is a condition where your body absorbs too much iron. It is also called an iron overload disorder.

The body normally absorbs just the right amount of iron from the food you eat. Iron is important for making red blood cells, producing certain hormones and maintaining overall health. But with hemochromatosis, the body absorbs and stores more iron than it needs.

This extra iron can build up in organs like the liver, heart and pancreas. Too much iron is toxic to the body. Over time, high iron levels can damage tissues and organs and lead to health problems like liver damage, heart problems, arthritis and diabetes.

What causes hemochromatosis?

There are two main types of hemochromatosis: primary and secondary.

Primary hemochromatosis

Hemochromatosis is usually genetic (it runs in families) and is most often caused by a change in the HFE gene. This gene controls how much iron your body absorbs from food. You inherit HFE from each of your parents.

Secondary hemochromatosis

Secondary hemochromatosis can be caused by medical treatments, medical conditions and other factors. These might include:

• Multiple blood transfusions 
• Chronic liver disease
• Certain types of anemia 
• Excessive intake of iron supplements

Risk factors for hemochromatosis

Hemochromatosis can affect anyone. Men are more likely to show symptoms earlier. Women often don’t experience symptoms until later in life, usually after menopause. This is because they lose iron during their menstrual periods.

Other factors that increase your risk include:

• Having two copies of an altered HFE gene
• Having a family member with the condition 
• Being of Northern European descent
• Having other liver or blood conditions 

Signs and symptoms of hemochromatosis

Hemochromatosis can be tricky because the symptoms develop slowly over time. Many people don’t realize they have it until iron has damaged their organs.

Common symptoms include: 

• Fatigue or feeling very tired
• Joint pain, such as iron fist (pain in the knuckles of the pointer or middle fingers)
• Weakness
• Stomach pain
• Darkening of the skin (sometimes called “bronze diabetes”)
• Unexplained weight loss
• Heart flutters or irregular heartbeat
• Loss of sex drive and impotence

How is hemochromatosis diagnosed?

Your health care provider will diagnose hemochromatosis through blood tests that measure your iron levels. These tests include:

• Serum ferritin test: This test measures the level of ferritin, a protein that stores iron.
• Transferrin saturation test: This test shows how much iron is carried in your blood.

If these tests show high iron levels, your provider may suggest more tests, like:

• Genetic tests to confirm if you have the HFE gene mutations.
• Liver function tests to help identify liver damage.
• A liver biopsy to check for iron buildup and look for any damage.
• An ultrasound and CT to screen for liver cancer.

If possible, early diagnosis is important. The sooner hemochromatosis is diagnosed, the better the chances of preventing serious health problems. 

Complications of hemochromatosis

If hemochromatosis is not treated, it can lead to serious health problems. These include:

• Liver damage: The iron buildup can cause scarring of the liver (cirrhosis), liver cancer or liver failure.
• Heart problems: Excess iron can cause heart failure.
• Diabetes: Too much iron can affect your pancreas, leading to diabetes.
• Joint damage: Iron deposits can cause arthritis, especially in the hands and knees.

By catching the condition early, many of these complications can be avoided.

Treatment options

The goal of treatment is to reduce the amount of iron in your body. There are two main treatment options:

Phlebotomy

This is the most common treatment and is similar to donating blood. During a phlebotomy session some of your blood is removed, which reduces the iron levels in your body. At first, you may need phlebotomy more often, possibly once or twice a week. Once your iron levels are under control, you will need it less often –maybe every few months.

Chelation therapy

If phlebotomy is not an option, your provider may recommend chelation therapy. This treatment uses medication to bind to excess iron in the body. The bound iron is then removed from the body through urine or stool (poop).

There are two main chelation medications:

• Deferoxamine (Desferal): Given as an injection under the skin or into a vein.
• Deferasirox (Exjade, Jadenu): Taken as an oral medication.

While chelation therapy is effective, it may have side effects like upset stomach or joint pain. Your provider will decide if this treatment is right for you.

In addition to these treatments, your provider may recommend other lifestyle changes to help lower your iron intake:

• Diet: Limit foods high in iron, such as red meat and fortified cereals. Avoid vitamin C supplements, as they can increase iron absorption. 
• Avoid alcohol: Alcohol can increase the risk of liver damage. 
• Stay hydrated: Drink plenty of water. Staying hydrated helps your body function properly and supports overall health.

Can I prevent hemochromatosis?

While primary hemochromatosis is genetic and can’t be prevented, there are steps you can take to manage your risk and prevent complications:

• Genetic testing: If you have a family history of the disease, consider genetic testing.
• Regular check-ups: Regular blood tests can help monitor your iron levels and liver function, especially if you are at risk.
• Healthy diet: Follow a healthy diet and get regular exercise, as directed by your provider.
• Limit alcohol: Reducing how much alcohol you drink can help protect your liver from damage.
• Stay hydrated: Drink plenty of water to support overall health. 

Living with hemochromatosis

If hemochromatosis is caught early, you can live a healthy life. But following your provider’s advice and keeping up with treatment are important. Regular blood tests will help monitor your iron levels.

You should also tell your family members to get tests. Since hemochromatosis is genetic, they may be at risk even if they don’t have symptoms yet.

It can also be helpful to connect with other people with hemochromatosis through support groups. These groups can provide valuable information and emotional support. 

Banner Health - We’re Here For You 

If you have questions about hemochromatosis or need support, contact Banner Health. Our team of hematology experts is here to help you navigate your health and well-being. Schedule an appointment today to take charge of your health.