Fucharoen S, Winichagoon P, Thonglairuam V, Wasi P
Faculty of Graduate Studies, Department of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Eur J Haematol. 1988 Jan;40(1):75-8. doi: 10.1111/j.1600-0609.1988.tb00800.x.
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.
EF 巴氏病是一种不常见的中间型地中海贫血，由同一患者同时遗传α地中海贫血和血红蛋白 E 所致。淀粉凝胶电泳显示 19 例 EF 巴氏病患者有两种表型。16 例患者有血红蛋白 CS + E + F + 巴氏，其余患者有血红蛋白 E + F + 巴氏。DNA 图谱分析和血红蛋白电泳表明，有四种基因型，涉及 5 个异常珠蛋白基因，导致了这种地中海贫血综合征。
