广西地区β-地中海贫血的基因型与临床型的关系

THE RELATIONS BETWEEN GENOTYPE AND MANIFESTATION OF βTHALASSEMIA IN GUANGXI

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.