摘要
我们分析49例无亲缘关系的β-地中海贫血双重杂合子或纯合子的基因突变类型和临床表现。检出10种突变类型,发现5例复合东南亚缺失型α-地中海贫血、6例复合Gy启动予-158nt(C→T)突变。根据这些患者的血红蛋白量,可将他们分成轻、中、重度贫血。2例β+纯合子表现为轻度贫血;5例复合东南亚缺失型α-地中海贫血,6例复合Gy启动子-158nt(C→T)的患者均表现为中度贫血。这三种类型临床上表现为中间型β-地中海贫血,大多数单纯的B1与B0双重杂合子和β0纯合子表现为重型β-地中海贫血。
Abstract: We analyzed the genotype and manifestation of 49 homozygotes of double heterozygotes of β thalassemia. 10 mutations were found. In these cases, 5 associated with Southeast Asia deletion type of a thalassemia, and with mutation of-158 nt (C→T) in promoter of Gγ globin gene. According to the hgemoglobin quantity, the anemia of these patients can be classified into mild, intermediate and severe three types. 2 cases of β+ homozygotes of thalassemia appeared mild anemia. 5 associated with Southeast Asia deletion type of α thalassemia and 6with mutation of-158 nt (C→T) in promoter of Gγ globin gene were intermediate anemia.The anothers of these 49 patients suffered with severe anemia.
出处
《中国小儿血液》
1996年第2期49-49,共1页
China Child Blood