EF Bart's disease: interaction of the abnormal alpha- and beta-globin genes.
EF Bart's disease is an uncommon form of thalassaemia intermedia resulting from the co-inheritance of alpha-thalassaemia and haemoglobin E in the same subject. Starch-gel electrophoresis revealed two phenotypes in 19 patients with EF Bart's. 16 patients had Hbs CS + E + F + Bart's and the remainder had Hbs E + F + Bart's. DNA mapping and haemoglobin electrophoresis indicated that there are four genotypes, involving 5 abnormal globin genes, responsible for this thalassaemia syndrome.
Fucharoen
S
S
Faculty of Graduate Studies, Department of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Winichagoon
P
P
Thonglairuam
V
V
Wasi
P
P
D000293:Adolescent; D000328:Adult; D004247:DNA / Q000235:genetics; D004592:Electrophoresis, Starch Gel; D004911:Erythrocyte Volume; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006454:Hemoglobins; D005914:Globins; D004247:DNA