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目的探讨新生儿脐血Hb Bart′s定量分析在α-地中海贫血筛查中的应用价值。方法采用全自动毛细管电泳技术对新生儿脐血Hb Bart′s进行定量分析,对阳性(含Hb Bart′s)者进行地中海贫血基因诊断;同时,随机抽取筛查阴性的100例进行α-地中海贫血基因诊断。结果在3715例新生儿脐血中,筛查出α-地中海贫血阳性634例,阳性率17.07%;对召回复查的328例初筛阳性病例进行地贫基因诊断,其中轻型α-地贫235例、静止型α-地贫54例、中间型α-地贫12例、重型α-地贫0例,未检出常见α-地贫27例,阳性共301例,诊断符合率91.77%。100例筛查阴性者中,发现地贫基因携带者2例,均为静止型α-地贫,假阴性率为2.00%。结论应用新生儿脐血Hb Bart′s定量分析筛查α-地中海贫血间便、快捷、及时、准确,并能实现早期初步诊断,值得广泛推广应用。
Objective To investigate the value of Hb Bart’s quantitative analysis of neonatal umbilical cord blood in the screening of α-thalassemia. Methods The Hb Bart’s of neonatal umbilical blood were quantitatively analyzed by automatic capillary electrophoresis and the gene of thalassemia was diagnosed in positive (including Hb Bart’s) patients. Meanwhile, 100 cases with negative screening were selected for α-Mediterranean Anemia gene diagnosis. Results Among 3,715 newborn umbilical blood samples, 634 positive cases of α-thalassemia were screened, the positive rate was 17.07%. The thalassemia gene was diagnosed in 328 newly screening positive cases, including 235 cases of mild α-thalassemia 54 cases of resting α-thalassemia, 12 cases of intermediate α-thalassemia and 0 cases of severe α-thalassemia. Totally 27 cases of common α-thalassemia were not detected, 301 cases were positive. The diagnostic coincidence rate was 91.77%. In 100 cases of negative screening, two carriers of thalassemia gene were found, both of which were quiescent α-thalassemia with a false-negative rate of 2.00%. Conclusion Hb Bart’s quantitative analysis of neonatal umbilical cord blood screening of α-thalassemia will be fast, timely and accurate, and can achieve early diagnosis, which is worthy of wide application.