Thalassemia cure on its way

first_img Facebook Twitter: @NeosKosmos Instagram As the most common genetic disorder worldwide, it’s amazing how many people have never heard of thalassaemia. Alternatively, for the Greek community it is rare to come across someone that hasn’t been touched by the blood disorder. One in ten people in Southern Europe carry the genetic code for the disease. Those who have thalassaemia major are no strangers to blood transfusions. At least every three weeks, it takes a sufferer anywhere from six hours to complete a lifesaving blood transfusion. Australian thalassaemia patients take up 20 per cent of the Australian blood supply, and as a form of anemia, they suffer from an increased risk of heart disease, diabetes and kidney problems. There is no cure, and the best preventative measure is for couples to get tested before they start their families. But, for current sufferers, there is still hope. At a thalassaemia fundraiser on Thursday at the Cell and Gene Therapy Group at the Murdoch Childrens Research Institute, Dr Jim Vadolas says a cure can be found with gene therapy. “Therapies are adequate now but they are by no means perfect,” he said. “One approach involves gene therapy. This involved the introduction of healthy genes and patient stem cells which would end the need for regular blood transfusions and prevent subsequent complications.” The first patient to be treated with gene therapy in the US is now transfusion free for five years. But more research needs to be done to get gene therapy more consistent, so that healthy cells take to the patients bloodstream more often. “Research is needed to keep the introduced gene intact and retain its normal function,” says Dr Vadolas. For the Murdoch Childrens Research Institute, their main aim is to get clinical trials up and running to get testing for a cure as soon as possible. The Institute’s new director, Professor Kathryn North AM says clinical trials will make Australian patients some of the first to reap the benefits of further research. “The biggest [new venture] is developing and establishing a purpose built clinical trial unit,” she tells Neos Kosmos. “Clinical trials are a way that you provide the latest in therapies for kids, for any therapy developed anywhere in the world, including our wonderful discoveries here. “Gone are the days when you need to go overseas to get the latest therapies.” During the event, it was comforting to see the room filled with not just your usual adult supporters, but some children who suffer from the disorder. Thalassaemia is diagnosed at birth, so a child grows up knowing nothing different to a world of blood transfusions every three weeks. A stigma still follows them around at school and in the playground, something that the event hoped to counteract. Awareness is the best possible treatment. In Greece, with awareness so high, couples routinely get blood tests before they start to have children to avoid transmitting the disorder. Raising awareness in Australia will make thalassaemia more preventable and hopefully make couples take the initiative to get tested. For more information, visit the World Health Organisation’s website at or Thalassaemia Australia’s website

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