Thalassaemia is the most common single gene disorder in the world. More than 60,000 children annually are born with this very serious condition, with the highest prevalence in the Mediterranean and Asia.
An abnormality in the red cells leads to anaemia and enlargement of the spleen and bone marrow. Treatment involves repeated blood transfusions to restore the body's red cell count and infants will die from anaemia unless they have monthly blood transfusions. However, complications often occur before the age of 30, usually from heart failure. These problems are caused by the repeated treatments.
The body has only a limited capacity to recycle excess iron and each transfusion adds extra iron, overloading the process, leading to an accumulation of iron in the heart and other organs. So unless adequate iron removal treatment is given, these transfusions load the body with iron that causes heart failure and eventually death.
There are treatments that promote the elimination of iron, but these are difficult, painful and potentially dangerous for the patient.
CMR allows cardiac iron levels to be assessed accurately, enabling efficient and effective use of treatment. Without CMR it is impossible to determine the level of iron in a patient's heart, so that some patients may undergo unnecessary treatment while others who need it go without it.
The Cardiovascular Magnetic Resonance (CMR) Unit at Royal Brompton Hospital has pioneered a new CMR test to measure cardiac iron, which allows, for the first time, the proper planning of cardiac therapy for these patients.
A number of papers have been published or submitted for publication that signal greatly improved detection and prediction of adverse cardiac outcomes, and describing a new iron chelator for removing iron from the heart.
In 2006-2007, the Unit published two world-leading, randomised, controlled trials of therapy in thalassaemia. The first was a multi-centre CMR study conducted in Italy and Greece for which the Unit was the coordinating centre. This showed for the first time that a new drug - Deferiprone - is significantly better at removing excess iron from the heart than the drug conventionally used (Deferoxamine given by injection). This study was published in the prestigious journal Blood.
The set of results came from a project using the CORDA mobile scanner, which had travelled three times to Cagliari, Sardinia, for a randomised controlled trial of Deferiprone. The team screened 163 patients, of which 61 were included in the trial.
Patients were treated with either standard management using Deferoxamine injected daily or standard management combined with Deferiprone. The trial showed that combined treatment is very effective.
These landmark trials have paved the way for better treatment and saving lives.