Cystic fibrosis (CF) is a genetic disorder that causes thick mucus to build up in the lungs. This leads to breathing difficulties, tiredness, lung infections and a shortened life expectancy. While treatment for CF continues to improve, healthy lifestyle choices can help maintain a good quality of life.…
What is hemochromatosis?
Hemochromatosis is a hereditary condition that causes your body to absorb too much iron from your diet. Iron is stored in your body and over time it accumulates in tissues and certain organs, including your heart, liver and pancreas. If undetected and untreated, excess iron can damage tissues and organs. The condition affects about one in 200 people in the US, typically of a Northern European origin,  and there can be varying levels of over-absorption of iron.
Genetic, or inherited conditions, are caused by specific alterations or mutations to genes. The gene that controls hemochromatosis is called HFE and there are two main mutations of the gene, known as C282Y and H63D. Hemochromatosis is a recessive genetic disorder, which means that for you to develop the disorder both your mother and father must carry, and pass on, a mutated form of that gene.
There are other rare forms of hemochromatosis, such as juvenile hemochromatosis and non-HFE hemochromatosis. This website does not contain information about these forms of hemochromatosis.
Normal iron absorption
Iron is an important mineral for the body. It is normally obtained from the foods we eat (such as red meats and green leafy vegetables). Absorption of iron by the intestines is finely tuned to absorb only the body's needs. In red blood cells, the iron is then used to form the protein called hemoglobin, which helps carry oxygen around the body. Additional stores of iron are found in the liver.
Risk factors for hemochromatosis include:
- Family history (particularly a parent or sibling with hemochromatosis), and;
- Being of Northern European origin.
Signs and symptoms
Signs and symptoms associated with hemochromatosis vary from person to person. Some include:
- Joint pain (knuckles, knees and ankles);
- Stomach pain;
- Low libido, and;
- Discolored skin (bronze or leaden grey).
Methods for diagnosis
Hemochromatosis can be diagnosed from a blood test which specifically measures the following: the transferrin saturation (the amount of iron attached to transferrin, a blood protein) and serum ferritin (which indicates overall iron levels in the body). If the levels appear higher than normal, a genetic test can be performed to identify if you are carrying the mutations C282Y and/or H63D in the HFE gene.
Types of treatment
There are certain lifestyle measures that you can follow to help manage hemochromatosis. These include:
- Not taking iron supplements;
- Avoiding excess alcohol intake, which can worsen liver damage;
- Cautious use of certain medications, such as acetaminophen, which are metabolized by the liver;
- Limiting intake of iron-rich foods, such as offal;
- Avoiding vitamin C supplements, which can increase the absorption of iron from your diet, and;
- Maintaining a healthy weight.
Hemochromatosis is treated by removing excess iron from your body in a process called venesection. This involves removal of blood from the body, similar to donating blood. Up to 500mL can be taken at regular intervals (up to twice a week) to bring the level of iron in the blood down into the healthy range. This may require blood to be taken for up to 18 months, depending on the starting amount of iron in your body. Once the iron level has returned to a healthy level, venesection may only be required a few times each year to keep you healthy.
If you meet the normal blood donor requirements, you can elect to donate your blood to be used for life saving purposes.
In certain individuals, where venesection may not be possible due to a pre-existing anemia, medications to remove iron may be used. These are known as chelation therapies. They bind to the iron in the body and are then excreted through the urine. However, they are not as effective as venesection, and therefore used only as an alternative.
The body has no method of excreting excess iron. As a result, excess iron can accumulate in tissues, such as the liver, heart, pancreas and joints. This can progressively lead to complications such as:
Hemochromatosis is a serious condition if left untreated. Treatment by venesection can successfully bring the level of iron to healthy and manageable levels. It is important to have regular blood tests, and treatment as required, to avoid iron overload and its associated organ damage. It is a life-long condition, but with the help of your doctors, it can be effectively managed. Further information and support can be found from Hemochromatosis.org - An Education Website for Hemochromatosis.
Hemochromatosis is a hereditary condition and cannot be prevented. If you have close relatives (parents or siblings) with hemochromatosis, you have an increased risk of developing the condition. It is important to have your blood tested to identify any abnormal iron levels.