Article
Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia.
American journal of hematology - 1 Jun 1997
Camaschella C, Kattamis A C, Petroni D, Roetto A, Sivera P, Sbaiz L, Cohen A, Ohene-Frempong K, Trifillis P, Surrey S, Fortina P
Abstract excerpt
The pathophysiology and clinical severity of beta-thalassemia are related to the degree of alpha/non-alpha-chain imbalance. A triplicated alpha-globin gene locus can exacerbate effects of excess alpha-chains caused by a defective beta-globin gene, although this is not observed in all cases. Extensive studies on this condition are lacking. We report a group of 17 patients who are heterozygous for both the alpha...
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