Thalassaemia clinical and patho-physiological considerations

The main clinical features of thalassaemia, as exemplified by homozygous β-thalassaemia, have been outlined in the light of the recent knowledge on the pathogenesis of this disease. The genetically determined degree of β-chain deficiency and the efficiency for its compensation are considered as the main factors determining clinical course and laboratory findings. Non-specific compensation through erythropoietic expansion is the cause of a multitude of effects, local, on bone, and general; it is of limited efficiency and harmful. Specific compensation is achieved through synthesis of γ-chains and is effective in reducing the damaging effects of β-chain deficiency and the resulting surplus of α-chains on the structure and function of the erythroid cell. Present-day treatment is still not satisfactory; however, understanding of the patho-physiology of these diseases may offer possibilities for more promising therapeutic approaches in the future.