【摘要】 评价重型地中海贫血 (地贫 )的早期诊断方法。方法 :新生儿脐血聚丙烯酰胺凝胶电泳 (TAu- PAGE)、基因分析及随访调查。结果 :连续筛查新生儿脐血 2 42 3例 ,α链消失 10例 (0 .41% ) ,β链消失 7例 (0 .2 9% )。 10例 Hb Bart’s水肿胎儿的基因分析均无 Bam HI和 Bgl 酶解的特异性片段 ;7例β°地贫患儿出现典型临床表现 ,其基因突变类型为 CD17/ CD173例 ,CD17/ CD41- 42 2例 ,CD17/ IVSI- 11例。结论 :TAu- PAGE能可靠进行新生儿重型地贫的早期诊断 ,对于早期干预改善患儿预后和遗传咨询、评价地贫控制计划实施效果具有重要意义更多还原

【Abstract】 Objectives To evaluate the early diagnosis way of thalassemia major. Methods Tricton polyacrylamide gel electrophoresis (TAU PAGE) of cord blood from newborns, gene analysis and following study were used. Results: of 2423 samples of cord blood, 10(0.41%) were found to have not α Chain and 7 (0.29%) have not β Chain. Not special fragment were found for all 7 Bart’s hydrop fetus after digestion with Bam HI and BglⅡ. Typical clinical manifestation appeared in early life of all 7 β°thalassemia major. Their genetype is the most common type: 3 were CD 17/CD 17,2 were CD 17/CD 41 42, and 1 was CD 17/ IVSI 1. Conclusions It is reliable to screen early thalassemia major in newborn by TAU PAGE way, and It is important to treat early and improve prognosis to patients, to geretic counseling and to evaluate the effecting of thalassemia preventive program.更多还原