better known today as thalassaemia (or as beta thalassaemia or thalassaemia major).the clinical picture of this important type of anaemia was first described in 1925 by the paediatrician thomas benton cooley. The name thalassaemia was coined by the nobel prise winning pathologist george whipple and the professor of paediatrics wm bradford at u. Of rochester because thalassa in greek means the sea (like the mediterrranean sea) – -aemia means in the blood so thalassaemia means sea in the blood. Thalassaemia is not just one disease. It is a complex contingent of genetic (inherited) disorders all of which involve underproduction of haemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of normal adult haemoglobin is made up of 2 alpha and 2 beta polypeptide chains. In beta thalassaemia, there is a mutation (change) in both beta globin chains leading to underproduction (or absence) of beta chains, underproduction of haemoglobin, and profound anaemia. The gene for beta thalassaemia is relatively frequent in people of mediterranean origin (for example, from italy and greece). Children with this disease inherit one gene for it from each parent. The parents are carriers (heterozygotes) with just one thalassaemia gene, are said to have thalassaemia minor, and are essentially normal. Their children affected wit
h beta thalassaemia seem entirely normal at birth because at birth we still have predominantly foetal haemoglobin which does not contain beta chains. The anaemia surfaces in the first few months after birth and becomes progressively more severe leading to pallor and easy fatiguability, failure to thrive (grow), bouts of fever (due to infections) and diarrhoea. Treatment based on blood transfusions is helpful but not curative. Gene therapy will, it is hoped, be applicable to this disease.