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Thalassemia, beta: Also known as thalassemia major .Theclinical picture of this important type of anemia was first described in 1925 by thepediatrician Thomas Benton Cooley.. Other names for the disease are Cooley's anemia and Mediterranean anemia. The name thalassemia was coined by the Nobel Prize winningpathologist George Whipple and the professor of pediatrics Wm Bradford at U. of Rochesterbecause thalassa in Greek means the sea (like the Mediterranean Sea) + -emia means in theblood so thalassemia means sea in the blood. Thalassemia is not just one disease. It is acomplex contingent of genetic ( inherited) disorders all of which involve underproductionof hemoglobin, the indispensable molecule in red blood cells that carries oxygen. Theglobin part of normal adult hemoglobin is made up of 2 alpha and 2 beta polypeptidechains. In beta thalassemia, there is a mutation (change) in both beta globin chainsleading to underproduction (or absence) of beta chains, underproduction of hemoglobin, andprofound anemia. The gene for beta thalassemia is relatively frequent in people ofMediterranean origin (for example, from Italy and Greece). Children with this diseaseinherit one gene for it from each parent. The parents are carriers (heterozygotes) withjust one thalassemia gene, are said to have thalassemia minor, and are essentially normal.Their children affected with beta thalassemia seem entirely normal at birth because atbirth we still have predominantly fetal hemoglobin which does not contain beta chains. Theanemia surfaces in the first few months after birth and becomes progressively more severeleading to pallor and easy fatiguability, failure to thrive (grow), bouts of fever (due toinfections) and diarrhea. Treatment based on blood transfusions is helpful but notcurative.