Thalassaemia is an inherited condition in which the genes that are responsible for producing haemoglobin are damaged or absent. Haemoglobin is the protein inside the red blood cells that transports oxygen to the body organs and tissues. Damaged or insufficient haemoglobin causes severe anaemia (=lack of oxygen in the body) and inability to sustain human life. Thalassaemia treatment requires regular blood transfusions and iron chelation therapy, without which the patients are at increased risk of premature death preceded by poor quality of life. Decades of scientific research and clinical advances have transformed thalassaemia from a fatal disease of childhood to a chronic, well-managed disease. Patients’ knowledge and self-management skills play a central role to such positive outcome. Evidence shows that well treated thalassaemia patients can lead a long and productive life, integrate and contribute to society.
A true revolution has taken place in the last 4 decades with regard to thalassaemia management and treatment. Thalassaemia is no longer a fatal disease of childhood as it once was; it is now a chronic well-managed disease with increased patients’ longevity and quality of life. Even though a final cure has not yet been found, Promising results from current research and clinical studies generate hope for the efficacy of new drugs and therapies in providing complete cure.
At this time, cure can only be achieved by stem cell transplantation only for those who have a compatible related donor. However, every year we hear that better results are being reported using umbilical cord blood stem cells or using matched unrelated donors and other techniques in order to serve more and more patients. Gene therapy, the final cure, still seems difficult to achieve but some breakthroughs have been reported.
Long survival & quality of life
Long survival can be achieved by adherence to treatment. Thalassaemia clinics are becoming more aware that they must improve their understanding and response to the psychosocial needs of patients in order to gain the highest degree adherence. The advent of new oral chelators will also help in this aspect. We are aware of a new drug coming on the market soon and several are being researched and are ready for human trials.