Haemochromatosis

Causes

Genetic, or inherited conditions, are caused by specific alterations or mutations to genes. The gene that controls haemochromatosis is called HFE and there are two main mutations of the gene, known as C282Y and H63D. Haemochromatosis 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 haemochromatosis, such as juvenile haemochromatosis and non-HFE haemochromatosis. This website does not contain information about these forms of haemochromatosis.

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 haemoglobin, which helps carry oxygen around the body. Additional stores of iron are found in the liver.

Signs and symptoms

Signs and symptoms associated with haemochromatosis vary from person to person. Some include:

• Fatigue;
• Joint pain (knuckles, knees and ankles);
• Weakness;
• Irritability;
• Stomach pain;
• Low libido, and;
• Discoloured skin (bronze or leaden grey).

Methods for diagnosis

Haemochromatosis 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.

A blood test. 

Types of treatment

Lifestyle measures

There are certain lifestyle measures that you can follow to help manage haemochromatosis. These include:

• Not taking iron supplements;
• Avoiding excess alcohol intake, which can worsen liver damage;
• Cautious use of certain medications, such as paracetamol, which are metabolised 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.

Venesection

Haemochromatosis 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. To find out if you are eligible to donate blood, please use the link to the Australian Red Cross Blood Service. Also, there is a separate link for your doctor to directly refer you for venesections at the Australian Red Cross Blood Service.

If you are not eligible to donate blood or would like to find out more information, such as other services that also provide venesection, please call the INFO LINE on 1300 019 028.

The venesection process. 

Medications

In certain individuals, where venesection may not be possible due to a pre-existing anaemia, 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.

Potential complications

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:

• Type 2 diabetes;
• Arthritis;
• Erectile dysfunction;
• Heart failure;
• Liver cirrhosis, and;
• Liver cancer.

Prognosis

Haemochromatosis 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 Haemochromatosis Australia.

Prevention

Haemochromatosis is a hereditary condition and cannot be prevented. If you have close relatives (parents or siblings) with haemochromatosis, you have an increased risk of developing the condition. It is important to have your blood tested to identify any abnormal iron levels.