摘要
目的:探讨毛细管电泳技术在新生儿α-地中海贫血早期筛查中的应用价值。方法:运用毛细管电泳技术对4 137份新生儿脐血标本进行Hb Bart's定量分析,对阳性标本(含Hb Bart's、Hb H及异常血红蛋白区带)召回做PCR地中海贫血基因分析。结果:4 137份新生儿脐血标本共筛查出阳性病例229例,阳性率5.5%;对召回复查的阳性病例121例全部进行了地贫基因分析,其中(-α3.7/αα)22例,(-α4.2/αα)8例,(--SEA/αα)74例,(--SEA/αα)/(41-42/N)1例,(-α3.7/--SEA)1例,(--SEA/-α4.2)2例,共108例,阳性率为89.3%。结论:毛细管电泳筛查脐血Hb Bart's与α-地中海贫血PCR基因诊断符合率较高。应用Hb毛细管电泳技术筛查α-地中海贫血简便、快速、经济并能实现早期初诊,值得推广应用。
Objective： To explore the application value of capillary electrophoresis for screening of α- thalassemia in neonates. Methods： The umbilical cord blood samples of 4 137 neonates were obtained for hemoglobin Bart＇s quantitative analysis by capri- lary electrophoresis, then the positive samples （containing hemoglobin Bart,, hemoglobin H, and abnormal hemoglobin zone） were recalled for gene analysis of α- thalassemia by PCR. Results： Among 4 137 neonatal umbilical cord blood samples, 229 positive cases were found, the positive rate was 5.5%. All the 121 positive cases recalled received gene analysis of α- thalassemia, 108 positive cases were found, in- cluding 22 cases of （ - α37/αα）, 8 cases of （ -α4.2/αα）, 74 cases of （ - --SEA/αα） , 1 case of （ - - SEA/αα） / （41 -42/N） , 1 case of （ - α3.7/-- SEA ） , and 2 cases of （ - - SEA/ -α4.2 ） , the positive rate was 89.3%. Conclusion： The coincidence rates of screening um- bilical cord blood hemoglobin Bart＇s by capillary electrophoresis and gene analysis of α- thalassemia by PCR are high. Screening α- thalas- semia with capillary electrophoresis is convenient, fast, and economic, which can achieve primary diagnosis early and the method is worthy to be popularized.
出处
《中国妇幼保健》
CAS
北大核心
2012年第35期5742-5745,共4页
Maternal and Child Health Care of China
