The molecular basis of AE-Bart's disease.
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.
Thonglairuam
V
V
Department of Medicine, Faculty of Medicine Siriraj Hospital, Bangkok, Thailand.
Winichagoon
P
P
Fucharoen
S
S
Wasi
P
P
D000293:Adolescent; D000328:Adult; D001797:Blood Protein Electrophoresis; D004247:DNA / Q000032:analysis; D005838:Genotype; D005914:Globins / Q000235:genetics; D006403:Hematologic Tests; D006446:Hemoglobin E / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D008875:Middle Aged; D015183:Restriction Mapping; D013789:Thalassemia / Q000235:genetics*
D006454:Hemoglobins; D005914:Globins; D004247:DNA; D006446:Hemoglobin E