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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
Evaluation of early diagnosis of thalassemia major (Thalassemia). Methods: Neonatal cord blood polyacrylamide gel electrophoresis (TAu-PAGE), gene analysis and follow-up survey. Results: There were 2 423 cases of neonatal umbilical cord blood continuously, 10 cases (0.41%) disappeared in α chain and 7 cases (0.29%) disappeared in β chain. There were no specific fragments of Bam HI and Bgl digestion in 10 cases of Hb Bart’s edema fetus. Seven cases of β ° thalassemia showed typical clinical manifestations. The gene mutation types were CD17 / CD173 and CD17 / CD41-42 2 cases, CD17 / IVSI- 11 cases. Conclusion: TAu-PAGE can reliably diagnose severe thalamic thalassemia in newborns. It is of great significance for early intervention to improve children’s prognosis and genetic counseling and evaluate the effect of thalassemia control program