What is Hemochromatosis?

Hemochromatosis and hereditary hemochromatosis are the excessive buildup of iron in the body. Our body needs iron to make hemoglobin, which is the part of our blood that carries oxygen to all of our cells. The problem with having too much iron in our body is that excessive iron if not naturally eliminated by the body, can be stored in various organs such as the heart, pancreas, skin, liver and joints. This “iron overload” can over time cause damage to the affected organs.

Types of Hemochromatosis and their Cause:

The most common type of hemochromatosis is “ Hereditary Hemochromatosis “. This type of hemochromatosis is caused by a mutation in the HFE gene, which regulates the amount of iron the body absorbs from food. Typically a person who inherits a defective HEF gene from both of their parents will most likely develop hereditary hemochromatosis. Conversely, a person that inherits a defective HFE gene from just one of their parents is a carrier but usually does not develop hemochromatosis. However, a carrier of the defective gene may develop a slight increase in iron absorption. Another less common type of hemochromatosis can be caused by ingesting too many iron supplements, frequent blood transfusions, excessive alcohol intake, liver disease and certain blood diseases.

Who is at Risk?

Men are more likely than women to have an iron build up do to hemochromatosis. This is because that pre menopausal women eliminate extra iron through blood from their menstrual cycles. Obviously if you have a history of hereditary hemochromatosis running in your family you would be at a higher risk for developing it or passing it on to your children. A simple blood test can determine if you are a carrier of the defective gene.

What are the Symptoms of Hemochromatosis?

The symptoms of this disease often do not appear until a person is 40 years of age or older. (though in my case I developed symptoms earlier. I will go over that later in this article) The reason that symptoms often do not appear until later in life is because the iron builds up slowly throughout the affected person’s life.

The early symptoms are somewhat vague or subtle. So this disease is sometimes mistaken for another condition. Symptoms can include:


Joint Pain


Abdominal Pain

Decrease in Sex Drive

Skin Color Darkens

More Frequent Urination


How is Hemochromatosis Diagnosed?

Typically your doctor will do a physical exam and ask about your medical history. If your doctor suspects that you may have excessive iron in your body he most likely will order blood tests such as:

Transferrin Saturation Test:

Once the results are in and the doctor determines that you do have a higher than normal iron level in your body he may schedule you to have a “ Liver Biopsy “. This procedure is the most uncomfortable test (I speak from experience) in which a small core sample of your liver is taken for further examination and diagnosis confirmation.

How is Hemochromatosis Treated?

Treatment for hemochromatosis can reverse most of the symptoms and prevent damage to the organs. The most common treatment is Phlebotomy. This is a procedure that removes blood from the body in a process similar to donating blood. At the beginning of treatments you may have to have a phlebotomy weekly or even twice weekly until the iron level in the body is reduced to a safe level. Once the iron has been reduced to the safe level then you will need to maintain it at that level by continuing to have phlebotomies on a regular schedule for the rest of your life (usually 1-3 months apart). Chelation therapy is also an option for people that cannot have phlebotomies. Chelating agents bind to the iron in your blood allowing the iron to be removed through urine or stool.

Notes of Caution:

If you have hemochromatosis, do not take vitamin C supplements. Too much vitamin C can cause your body to absorb more iron from the foods that you eat. Alcohol can also increase the absorption rate of iron by your body.

A Personal Note about Hereditary Hemochromatosis :

I have hereditary hemochromatosis. I was diagnosed about 20 years ago at age 30. My diagnosis came about when I started to have chronic fatigue. Even though I was in very good physical shape, exercising, running etc. I would be sitting at work in front of my computer and I just wanted to nod off to sleep in the middle of the day. I went to my doctor and told him of the fatigue and my fairly healthy lifestyle. He ordered several blood tests and came to the determination that I had too much iron in my body. He then scheduled me for a liver biopsy at a local hospital. The biopsy confirmed the hemochromatosis diagnosis as my liver was loaded with iron. My treatments started immediately with phlebotomies on a weekly basis for about 6 months then became bi-weekly for a few months then monthly for awhile. These days I have a phlebotomy every 3 months to keep the iron level at a safe level. It is a bit of an inconvenience but better than the alternative of a shortened life span.