Haema 2011; 2(3): 297-303
by Markissia Karagiorga-Lagana1, Vasilis Berdoukas2
1Former Director Thalassaemia Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece,
2Visiting Professor, University of Southern California, Keck School of Medicine , Children’s Hospital of Los Angeles, Division of Hematology/Oncology, Los Angeles, USA
Abstract
Over the last 20 years the management for Thalassaemia major has improved to the point where we predict that the patients’ life expectancy will approach that of the normal population. These outcomes result from safer blood transfusions, the availability of three iron chelators, new imaging tech- niques that allow specific organ assessment of the degree of iron overload and the improvement in the treatment of hepatitis. The ability to prescribe any of the three chelators as well as their combinations has lead to more effective reduction of the total body iron. The ability to determine the amount of iron in the liver and heart by magnetic resonance imaging allowed the prescription of the most appropriate chelation regime for the patients and to reconsider what our aims with respect total body iron should be. Thus, normalizing iron stores not only prevents new morbidities but also reverses many complications such as cardiac failure, hypothyroidism, hypogonadism, impaired glucose tolerance and type 2 diabetes, improving survival and patient’s quality of life. Furthermore, outcomes should continue to improve in the future. Starting relative intensive chelation in younger children may prevent short stature and abnormal pubertal maturation as well as other iron related morbidities. Also, further information should be- come available on the use of other combinations in chelation treatment, some of which have only been used in a very limited fashion to date. New safe oral chelators may also become available that may of- fer additional ease of use. All these advances in management do require absolute cooperation and understanding on behalf of the parents, children and subsequently the adult him/herself. Only with such cooperation can normal long term survival be achieved as adherence to treatment is now likely the primary barrier to longevity.