Thalassaemia Major and the Heart
Disorders of haemoglobin synthesis, such as thalassaemia, are the most common monogenetic disorders worldwide. When first described, thalassaemia major (TM) was universally fatal in childhood, but after the adoption of regular blood transfusion, survival until early teenage and adulthood was to be expected. Sadly as these individuals aged organ failure followed, due to the accumulated iron secondary to regular blood transfusion. Principal among the tissues affected by iron overload is the heart and even to the present day, heart disease accounts for the overwhelming majority of premature deaths in this population. For nearly four decades the only available treatment was the demanding regime of parenteral chelation therapy, required on a daily basis, to achieve growth, development and survival with limited or no organ damage. Despite the adoption of these treatment strategies the outlook for thalassaemia patients remained poor, with a 30% to 40% mortality occurring between late teenage and 30 years of age, even in well organised health care systems, such as in the UK, where regular transfusion and deferoxamine (DFO) treatment were readily available. This dreadful early mortality, largely as a consequence of myocardial iron overload, is now improving so that in the UK and other developed nations, heart failure in thalassaemia patients has become uncommon and premature death a much rarer tragedy.
This editorial reviews, from a personal viewpoint of a cardiologist involved in the care of these patients for the last 25 years, the progress in the management of the cardiovascular complications of TM, which has followed better techniques of identifying those individuals at greatest risk, improved chelation strategies making best use of the three chelating agents that are now available and improved co-ordinated holistic treatment strategies, derived from a better understanding of this complicated disease state.
Introduction
Disorders of haemoglobin synthesis, such as thalassaemia, are the most common monogenetic disorders worldwide. When first described, thalassaemia major (TM) was universally fatal in childhood, but after the adoption of regular blood transfusion, survival until early teenage and adulthood was to be expected. Sadly as these individuals aged organ failure followed, due to the accumulated iron secondary to regular blood transfusion. Principal among the tissues affected by iron overload is the heart and even to the present day, heart disease accounts for the overwhelming majority of premature deaths in this population. For nearly four decades the only available treatment was the demanding regime of parenteral chelation therapy, required on a daily basis, to achieve growth, development and survival with limited or no organ damage. Despite the adoption of these treatment strategies the outlook for thalassaemia patients remained poor, with a 30% to 40% mortality occurring between late teenage and 30 years of age, even in well organised health care systems, such as in the UK, where regular transfusion and deferoxamine (DFO) treatment were readily available. This dreadful early mortality, largely as a consequence of myocardial iron overload, is now improving so that in the UK and other developed nations, heart failure in thalassaemia patients has become uncommon and premature death a much rarer tragedy.
This editorial reviews, from a personal viewpoint of a cardiologist involved in the care of these patients for the last 25 years, the progress in the management of the cardiovascular complications of TM, which has followed better techniques of identifying those individuals at greatest risk, improved chelation strategies making best use of the three chelating agents that are now available and improved co-ordinated holistic treatment strategies, derived from a better understanding of this complicated disease state.
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