Thalassaemia : a review

Abstract

Although reference to a disease causing anaemia in children can be found in ancient Greek and Italian writings, the first clinical description of thalassaemia as a separate entity, was done by Cooley and Lee in 1925. Since then b-thalassaemia has also been known as Cooley's anaemia. The term 'thalassaemia' was in fact coined by Whipple and Bradford in 1932, in their paper on the pathology of the disease. Thalassaemia is derived from the Greek word Qalassa (Thalassa) meaning 'the sea'. It has been generally accepted that the high incidence of thalassaemia and the common haemoglobin variants, Hb S, Hb E and HB C, in certain areas of the world is the result of selective pressures of Plasmodiumfalciparum malaria. As can be seen in figure 1, the distribution of these disorders follow quite closely the distribution of P. falciparum. There is good evidence to believe that carriers of one mutated gene had a higher reproductive fitness in malarial areas as compared to normal individuals, possibly due to an inability of the intracellular parasite to complete its life cycle.