HAEMOCHROMATOSis
 

What is Haemochromatosis?

 
Iron in small quantities is essential to life, particularly for the function of haemoglobin, the blood protein which carries oxygen to the tissues.
 
Normally iron is taken into the body from food via the intestine (known as “absorption”). 
 
Haemochromatosis is a genetic (family inherited) disorder in which too much iron is taken into the body.
 
Haeomochromatosis Iron LargeThe abnormal gene involved is called the HFE gene. Over many years the iron levels slowly build up in the liver, heart, pancreas and other hormonal glands and joints. By the time the damage occurs, it is often too late for the organ to repair itself and even after treatment, some permanent damage may remain.
 

How common is Haemochromatosis?

 
Haemochromatosis is one of the commonest genetic conditions with about one person in every 300 having the disease and about 12% of our Australian population being carriers of one haemochromatosis gene.  Carriers of the common HFE gene ie those who have one copy only (these people are called heterozygotes) of C282Y do not suffer from iron overload.
 

What are the symptoms of Haemochromatosis?

 
Mostly this is a silent disorder in younger years with most people unaware there is a problem. Later,symptoms vary considerably and can resemble those of many other medical conditions which sometimes makes diagnosis difficult.
 
Some common symptoms include fatigue, weakness, weight loss, abdominal discomfort and joint pain. A tanned appearance, not due to sun exposure may also occur.
 
Other symptoms may develop as a result of organ damage to the liver, heart (palpitations, shortness of breathe, chest pain), pancreas (thirst or frequent urination as a result of diabetes) or other hormonal deficiencies (loss of sex drive or body hair).
 

Who may be at risk of Haemochomatosis?

 
• Blood relatives of patients (particularily close relatives such as brothers, sisters and children).

• Individuals with diabetes, arthritis, certain heart problems and liver disease.
 

How is Haemochromatosis diagnosed?

 
A simple blood test will often suggest the condition. This blood test includes Serum transferrin saturation and Serum ferritin (the serum ferritin may be normal in the early stages).
 
If the test results are abnormal on at least two occasions, a further blood test looking for the HFE gene may be all that is required to confirm the diagnosis of haemochromatosis. 
 
Some patients may need a liver biopsy to confirm the diagnosis and/or assess the degree of damage to the liver. Liver biopsy involves removal of a small piece of liver with a needle under local anaesthetic. 
 
First degree (parents, siblings & children) relatives over the age of 10 should be screened for haemochromatosis. Family screening will include an examination by a doctor with blood testing as described above to determine which family members are likely to have the disease. 
 

Is there any treatment for Haemochromatosis?

 
Yes, by removing 400 - 500ml of blood as in a blood donation at regular intervals, the body is stimulated into making more blood and this uses up the excess iron. This procedure is called “venesection”.
 
Depending on the amount of iron in the body, this treatment can take as long as one to two years. Blood tests are done to monitor the iron levels. 
 
Once the excess iron has been removed, venesections are done about four times a year to prevent iron building up again. Venesection treatments need to continue for the rest of the person’s life. They can be done at some hospitals, some pathology centres, or some general practices. On occasions, venesections can be organised through blood banks, after referral from a specialist.
 

How effective is the treatment? What is the outcome?

 
There is good evidence that with removal of excess iron, patients feel better, stronger, liver size decreases, diabetes may improve and heart function improves.
 
If treatment has been commenced early, damage to the liver and other organs may be completely prevented. If cirrhosis (severe liver scarring) is present, it is usually not reversed by treatment, but should not continue to worsen. 
 
Without venesection treatment, iron continues to build up and organ damage continues. It is not possible to treat Haemochromatosis with a low iron diet, since iron is present in most foods and it is the iron already in the body which will cause the damage. 
 
However, it is advised that patients with haemochromatosis do not take iron tablets of any type, nor vitamin tablets containing vitamin C as vitamin C can increase iron absorption. 
 

Support groups for Haemochromatosis?

 
The Haemochromatosis Society of Australia
 
The Australian Gastroenterology Institute – 145 Macquarie St, Sydney. NSW 2000
 
Acknowledgements: 
The Gastroenterolical Society of Australia
The Haemochromatosis Society of Australia Inc.