EF Bart's disease: Interaction of the abnormal α‐ and β‐globin genes

EF Bart's disease is an uncommon form of thalassaemia intermedia resulting from the co-inheritance of α-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.