2nd October 2009
Experts at Royal Brompton Hospital in London have made a major breakthrough in the treatment of thalassaemia – one of the most common genetic diseases worldwide. Every year around 60,000 children are born with the condition, and in the year 2000, around 50 per cent of thalassaemia (major) patients in the UK died by the age of 35. By using a new scanning technique, a team from Royal Brompton and Imperial College London has shown the potential to dramatically cut the mortality rate for the disease by 71 per cent.
Thalassaemia causes defects in haemoglobin production which in turn results in anaemia. In its most serious form it can cause organ damage, restricted growth, liver disease, heart failure and ultimately death. Those with the conditionneed extensive medical care which includes frequent blood transfusions. But a major side effect of these transfusions is a build-up of potentially life-threatening iron levels in the heart. This can lead to serious, and in many patients, fatal, heart failure.
Results from an international study published in Circulation[1] today, clearly indicate that by using cardiovascular magnetic resonance (CMR) scanning , experts can measure iron levels more accurately than current methods (biopsies or blood tests), and as a result can better predict the development of heart failure in thalassaemia patients. Those affected can then be closely monitored and treated for heart failure at the earliest indication. This breakthrough will increase life expectancy and greatly improve well-being for thalassaemia patients. CMR is non-invasive and has no known side-effects.
Leading the study, Professor Dudley Pennell, director of the NIHR cardiovascular Biomedical Research Unit and the CMR unit at Royal Brompton Hospital and from the National Heart and Lung Institute at Imperial College London, said: “This is a major breakthrough for thalassaemia patients. It gives real hope to sufferers around the world and will completely change the way the disease is managed.
“The study clearly shows that by using CMR we can more accurately predict future heart problems in patients with thalassaemia major. This information can then be used to provide better treatment options - reducing deaths from heart failure and offering patients a much better quality of life.”
Patient Amit Ghelani, who took part in the study, added: “I was getting my iron levels checked in the usual way through blood tests. But after being referred to Royal Brompton my heart iron levels were checked using CMR. For me, it meant that I got the treatment that I needed for heart failure immediately, which essentially saved my life.”
Professor Dame Sally Davies, Director General of Research and Development at the Department of Health said: “This is precisely the sort of practical research aimed at helping patients the National Institute for Health Research is keen to fund. It will help people not just in England but around the world.”
A total of 652 patients with thalassaemia major were included in the study. They received clinical care at 21 centres throughout the UK. The patients were scanned at the CMR unit at Royal Brompton Hospital between 1999 and 2006. Of these patients, 319 were male and 333 female with an average age of 27 years at their first scan.
