AE型巴氏病的分子基础。

The molecular basis of AE-Bart's disease.

作者信息

Thonglairuam V, Winichagoon P, Fucharoen S, Wasi P

机构信息

Department of Medicine, Faculty of Medicine Siriraj Hospital, Bangkok, Thailand.

出版信息

Hemoglobin. 1989;13(2):117-24. doi: 10.3109/03630268908998061.

DOI:10.3109/03630268908998061

PMID:2737907

Abstract

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.

摘要

AE-巴特氏病是一种中间型地中海贫血，由α地中海贫血与杂合子Hb E相互作用所致。在本研究中，我们对25例经淀粉凝胶电泳诊断为AE-巴特氏病的患者的α珠蛋白基因进行了分析。21例患者除了有Hb E + A + 巴特氏外，还有Hb恒春突变体，其余4例患者仅有Hb E + A + 巴特氏。DNA图谱分析显示，4例仅有Hb E + A + 巴特氏的患者的α珠蛋白基因型为α地中海贫血-1/α地中海贫血-2，而其余患者的α基因型为α地中海贫血-1/非缺失型α地中海贫血。如淀粉凝胶电泳所示，非缺失型α地中海贫血为Hb恒春突变体。血液学数据和血红蛋白分析表明，Hb恒春突变体-AE-巴特氏病是一种比AE-巴特氏病更严重的临床综合征。