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  • Title: The molecular basis of AE-Bart's disease.
    Author: Thonglairuam V, Winichagoon P, Fucharoen S, Wasi P.
    Journal: Hemoglobin; 1989; 13(2):117-24. PubMed ID: 2737907.
    Abstract:
    AE-Bart's disease is a thalassemia intermedia resulting from the interaction between alpha-thalassemia and heterozygous Hb E. In this study we analyzed the alpha-globin genes of 25 patients designated as AE-Bart's disease by starch gel electrophoresis. Twenty-one cases had Hb Constant Spring in addition to Hbs E + A + Bart's, and the remaining four cases had only Hbs E + A + Bart's. DNA mapping revealed the alpha-globin genotype of alpha-thalassemia-1/alpha-thalassemia-2 in four patients who had Hbs E + A + Bart's, whereas the alpha genotype of the remainder is alpha-thalassemia-1/nondeletion alpha-thalassemia. The nondeletion alpha-thalassemia is Hb Constant Spring as indicated by starch gel electrophoresis. Hematologic data and hemoglobin analysis showed that Constant Spring-AE-Bart's disease is a more severe clinical syndrome than AE-Bart's disease.
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