ADJOURNMENT;International Brain Tumour Awareness Week, Genetic Haemochromatosis – 31 Oct 2011

To begin with tonight I would like to recognise that this week is International Brain Tumour Awareness Week. There are a number of senators, members and staffers wearing grey ribbons to signal their support for International Brain Tumour Awareness Week, which is running from 30 October to 5 November. Each year in Australia about 1,400 new malignant cases of brain tumour and about 2,000 brain tumours are diagnosed. Around 100 of those a year are in children and that is very sad for all of us.

I also wish to speak tonight about the most common genetic condition in Australia. It is a condition that is estimated to have a serious impact on the lives of between 20,000 and 50,000 Australians. It is potentially fatal and yet little is known about it. It is often overlooked but it is not difficult to diagnose. It is a condition which causes great cost to our health services but which is easily and cheaply treated. This is a serious problem, but it is a problem with a solution. And most people have never heard of it.

Most people know that if we have too little iron in our bodies we can become tired and unwell. This is known as anaemia. But one in 200 Australians of European origin have a genetic condition that puts them at risk of having too much iron. This condition is known as genetic haemochromatosis or inherited iron overload disorder. The gradual accumulation of too much iron over the first four or five decades of life causes damage to many organs, particularly the liver and the heart, and the joints. Early symptoms include chronic fatigue, joint pain and abdominal pain. Higher levels of iron overload may cause fibrosis and cirrhosis of the liver, leading to a much increased risk of liver cancer. It may also cause arthritis, diabetes, cardiac problems, impotence and hormonal changes. The incidence of both bowel and breast cancer is doubled with this condition. A recent Swedish study showed that haemochromatosis triples the incidence of hip replacement while the rate of knee replacement is doubled and ankle replacement is increased by a factor of 10.

There is both good news and bad news about our understanding of haemochromatosis. The bad news is that it is grossly under-diagnosed in Australia. Very often people are treated for the symptoms without the underlying cause being identified. Others are diagnosed far too late when serious and unrecoverable organ damage has occurred. It is important to realise that because no two people are alike symptoms will vary from person to person. In some cases people will not even display symptoms. Men most often display symptoms between the age of 40 and 60. Women may not develop symptoms until later in life because of the blood loss that takes place during child-bearing years; however, some women are diagnosed at a younger age.

The diagnosis of haemochromatosis is made by a blood test. Iron studies look at the levels of transferrin saturation and serum ferritin. The normal level for transferrin saturation is 10 to 50 per cent while serum ferritin is between 20 to 300 micrograms per litre of blood for males and 10 to 200 micrograms per litre for females. If these levels are elevated in two separate tests, a diagnosis of haemochromatosis can be made and treatment can begin.

The good news is that the effects of haemochromatosis are entirely preventable. Pioneering work by Australian scientists over the last 25 years has contributed to a simple genetic test. This test can be conducted if there is a family history of the disease. We now know the pattern of inheritance and general practitioners are able to order the test to identify people with the genetic mutation. Tests are not normally done prior to a person turning 18 unless they display very unusual symptoms.

When it comes to treatment, the good news gets even better. The universally accepted treatment for haemochromatosis is venesection—or, to put it in lay terms, for the patient to give blood. This simple treatment removes the excess iron and, if started early enough, completely prevents any problem developing from the condition. The treatment is usually undertaken at regular intervals and it can take up to 18 months with the weekly or sometimes twice-weekly taking of blood, depending on the original iron status of the patient. Once normal levels of iron are re-established, the taking of blood is done less frequently to maintain those levels throughout the patient’s lifetime. Patients may have three or four treatments annually. What is more, that blood, if given at a donor centre, can be used in the same way as any other donated blood.

At this time we do not know the full cost to the nation of this entirely preventable condition, but it is undoubtedly very high. It includes the high cost of medical treatments and surgical intervention. I have mentioned joint replacement, but in some cases liver transplants are the only way to save lives. In addition, there is the great cost to the nation of early retirement, as people with haemochromatosis suffer chronic fatigue, joint pain and arthritis and so wish to get out of the workforce. People who would otherwise have been contributing their skills and their labour leave the workforce prematurely. And to these costs we must add the personal suffering and discomfort of people with the condition.

As I have said, this problem is entirely preventable. We need to raise awareness of the condition in the medical profession and in the community. People who have the condition must be encouraged to tell their family members so that they can be tested. If the test shows they are carrying the gene, they can then take the appropriate action.

Haemochromatosis Society Australia Inc., otherwise known as Haemochromatosis Australia, was founded in 1991. It is a not-for-profit organisation that is funded by the subscription fees of its 1,400 members. Fortunately, we have a small band of very dedicated volunteers who operate Haemochromatosis Australia. Tasmanian Ben Marris OAM became the group’s national president in 2010 and is joined on the committee by Margaret Rankin AM and others. Margaret was the founding president and served in that role for over 20 years until she stepped down in 2010 and is now the patron. Haemochromatosis Australia provides a 1300 information telephone line and works hard to spread the word about this serious illness. In a 12-month period the organisation held nine information sessions in various parts of the country and attracted about 300 people. In 2012 Haemochromatosis Australia plans to hold an awareness week to further raise the profile of the disease. And it is pleasing to see that the National Health and Medical Research Council has just granted $824,258 to Professor Martin Delatycki of the Murdoch Children’s Research Institute to continue the pioneering work into this condition, upholding Australia’s world-class standing in this area.

On 3 October this year I was pleased to be able to accompany Ben to meet with the Hon. Nicola Roxon MP, Minister for Health and Ageing, along with the Deputy Secretary of the Department of Health and Ageing, Rosemary Huxtable. This meeting took place at the community cabinet held in Kingston, Tasmania. We discussed the need to raise awareness of haemochromatosis and achieve much higher levels of early diagnosis. We also discussed the proposal for a ‘Haemochromatosis Week’, which I look forward to being involved in in the future.

In closing, I would like to reiterate that haemochromatosis is the most common genetic condition in Australia. It is estimated to have a serious impact on the lives of between 20,000 and 50,000 Australians. It is potentially fatal and yet little known. It is often overlooked but is not difficult to diagnose. It is a condition that causes much pain and great cost to our health services, and obviously to those who suffer from it, but it is easily and cheaply treated. This is a serious problem, but it is a problem with a solution. We need to raise awareness and people need to be diagnosed early before any lasting damage is done. To find out more about haemochromatosis, I encourage interested members of the public to visit the website of Haemochromatosis Australia or phone the information line on 1300019028. I look forward to the day when all people with this condition are diagnosed early and so avoid any of its problems.