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Anemia, Cooley's

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Definition

Better known today asAnemia, Cooley's: Better known today asthalassemia (or as beta thalassemia or thalassemia major). The clinical picture of thisimportant type of anemia was first described in 1925 by the pediatrician Thomas BentonCooley. Another name for the disease is Mediterranean anemia. The name thalassemia wascoined by the Nobel Prize winning pathologist George Whipple and the professor ofpediatrics Wm Bradford at U. of Rochester because thalassa in Greek means the sea (likethe Mediterranean Sea) + -emia means in the blood so thalassemia means sea in the blood.Thalassemia is not just one disease. It is a complex contingent of genetic (inherited)disorders all of which involve underproduction of hemoglobin, the indispensable moleculein red blood cells that carries oxygen. The globin part of normal adult hemoglobin is madeup of 2 alpha and 2 beta polypeptide chains. In beta thalassemia, there is a mutation(change) in both beta globin chains leading to underproduction (or absence) of betachains, underproduction of hemoglobin, and profound anemia. The gene for beta thalassemiais relatively frequent in people of Mediterranean origin (for example, from Italy andGreece). Children with this disease inherit one gene for it from each parent. The parentsare carriers (heterozygotes) with just one thalassemia gene, are said to have thalassemiaminor, and are essentially normal. Their children affected with beta thalassemia seementirely normal at birth because at birth we still have predominantly fetal hemoglobinwhich does not contain beta chains. The anemia surfaces in the first few months afterbirth and becomes progressively more severe leading to pallor and easy fatigability,failure to thrive (grow), bouts of fever (due to infections) and diarrhea. Treatment basedon blood transfusions is helpful but not curative. Gene therapy will, it is hoped, beapplicable to this disease.


 

 

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