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Anemia, Mediterranean

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Definition

Better known today asAnemia, Mediterranean: 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. The name thalassemia was coined by the Nobel Prize winning pathologist GeorgeWhipple and the professor of pediatrics Wm Bradford at U. of Rochester because thalassa inGreek means the sea (like the Mediterranean Sea) + -emia means in the blood sothalassemia means sea in the blood. Thalassemia is not just one disease. It is a complexcontingent of genetic (inherited) disorders all of which involve underproduction ofhemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globinpart of normal adult hemoglobin is made up of 2 alpha and 2 beta polypeptide chains. Inbeta thalassemia, there is a mutation (change) in both beta globin chains leading tounderproduction (or absence) of beta chains, underproduction of hemoglobin, and profoundanemia. The gene for beta thalassemia is relatively frequent in people of Mediterraneanorigin (for example, from Italy and Greece). Children with this disease inherit one genefor it from each parent. The parents are carriers (heterozygotes) with just onethalassemia gene, are said to have thalassemia minor, and are essentially normal. Theirchildren affected with beta thalassemia seem entirely normal at birth because at birth westill have predominantly fetal hemoglobin which does not contain beta chains. The anemiasurfaces in the first few months after birth and becomes progressively more severe leadingto pallor and easy fatigability, failure to thrive (grow), bouts of fever (due toinfections) and diarrhea. Treatment based on blood transfusions is helpful but notcurative. Gene therapy will, it is hoped, be applicable to this disease.


 

 

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