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Advances in the Prevention and Treatment are Changing Thalassemia from a Fatal to a Chronic Disease. Experience from a Cyprus Model and its Use as a Paradigm for Future Applications

Thalassemia is endemic in Cyprus with a frequency of 1 in 6 persons being a heterozygote and about 1 in 1,000 a homozygous thalassemia major patient. Cyprus has been a pioneer nation in reducing and almost eliminating the number of births of thalassemia major patients by introducing prenatal and antenatal diagnosis. The risks associated with bone marrow transplantation (BMT) make transfusion and chelation therapy the major form of treatment for the vast majority of thalassemia patients. Improved transfusion techniques, diagnostic methods, iron chelation and supportive therapy have increased the quality of life and survival of patients, some of whom are exceeding 50 years of age. The introduction of effective chelation therapy protocols using primarily deferiprone (L1) in combination with deferoxamine (DFO) resulted in the reduction of iron overload induced cardiac failures, which is the main cause of death in thalassemia major. Despite their chronic condition and tedious clinical management many patients are successful professionals, married and have children. The advancement in treatment is transforming thalassemia from a fatal to a chronic condition and some families are opting for giving birth to a thalassemic child rather than abortion.