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|Title:||The molecular basis of AE-bart's disease|
|Keywords:||Biochemistry, Genetics and Molecular Biology;Medicine|
|Citation:||Hemoglobin. Vol.13, No.2 (1989), 117-124|
|Abstract:||AE-Bart's disease is a thalassemia intermedia resulting from the interaction between αthalassemia and heterozygous Hb E. In this study we analyzed the αglobin 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 αglobin genotype of αthalassemia-1/αthalas-semia-2 in four patients who had Hbs E + A + Bart's, whereas the α genotype of the remainder is αthalassemia-1/nondeletion αthalassemia. The nondeletion αthalassemia 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. © 1989 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.|
|Appears in Collections:||Scopus 1969-1990|
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