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Thalassemia major: The dire disease also known as betathalassemia. The clinical picture of this form of anemia was first described in 1925 bythe pediatrician Thomas Benton Cooley. Other names for the disease are Cooley's anemia and Mediterranean anemia. The term thalassemia was coined by the Nobel Prizewinning pathologist George Whipple and the professor of pediatrics William Bradford at U.of Rochester because thalassa in Greek means the sea (like the Mediterranean Sea) + -emiameans in the blood so thalassemia means sea in the blood. Thalassemia is not just onedisease. It is a complex contingent of genetic ( inherited) disorders all of which involveunderproduction of hemoglobin, the indispensable molecule in red blood cells that carriesoxygen. The globin part of normal adult hemoglobin is made up of 2 alpha and 2 betapolypeptide chains. In beta thalassemia, there is a mutation (change) in both beta globinchains leading to underproduction (or absence) of beta chains, underproduction ofhemoglobin, and profound anemia. The gene for beta thalassemia is relatively frequent inpeople of Mediterranean origin (for example, from Italy and Greece). Children with thisdisease inherit one gene for it from each parent (and so are said to be homozygous forbeta thalassemia). The parents are carriers (heterozygotes) with just one thalassemiagene, are said to have thalassemia minor, and are essentially normal. Their childrenaffected with beta thalassemia seem entirely normal at birth (because at birth we stillhave predominantly fetal hemoglobin which does not contain beta chains) but the anemiaemerges in the first few months of life and becomes progressively more severe leading topallor and easy fatiguability, failure to thrive (grow), bouts of fever (due toinfections) and diarrhea. Treatment based on blood transfusions is helpful but notcurative.