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目的探讨血红蛋白电泳试验和PCR基因确证试验在α-地中海贫血临床诊断上的优劣。方法先用红细胞渗透脆性试验筛查新生儿、产检、婚检三类人群血液标本。阳性者重采标本,做血红蛋白电泳试验和PCR基因试验确证试验,比较两种方法的α-地贫检出率。结果共筛查血液标本7 820例,其中获得红细胞脆性试验阳性1526例,占总人数的19.51%(包含α-地贫和β-地贫患者)。1 526例阳性血液经用血红蛋白电泳试验,诊断为α-地贫者822例,占阳性人数的53.87%;分别同时进行PCR基因试验和三种广东地区最常见的缺失型α-地贫检测,获得确证患者785例,占阳性人数的51.44%。两种方法经统计比较,χ2=1.80,P<0.25,差异没有统计学意义,说明两种方法对α-地贫患者的检出率相近,有较理想的可比性。结论血红蛋白电泳试验是一种既经济便宜又简单快捷的α-地贫诊断方法,其优越特性值得在临床实验室推广普及使用。
Objective To investigate the advantages and disadvantages of hemoglobin electrophoresis and PCR gene confirmation in the clinical diagnosis of α-thalassemia. Methods First erythrocyte infiltration fragility test screening of newborns, birth control, premarital three groups of blood samples. Positive specimens were re-mining, hemoglobin electrophoresis test and PCR gene test confirmatory test, comparing the two methods of α-thalassemia detection rate. Results A total of 7 820 blood samples were screened, of which 1526 were positive for erythrocyte fragility test, accounting for 19.51% of the total (including α-thalassemia and β-thalassemia patients). 1 526 cases of positive blood were detected by hemoglobin electrophoresis, and 822 cases of α-thalassemia were diagnosed, accounting for 53.87% of the positive number. PCR gene test and the three most common deletion-type α-thalassemia were detected in Guangdong. Obtained 785 confirmed patients, accounting for 51.44% of the positive number. The two methods by statistical comparison, χ2 = 1.80, P <0.25, the difference was not statistically significant, indicating that the detection rate of the two methods in patients with α-thalassemia similar, there is a more ideal comparability. Conclusion Hemoglobin electrophoresis test is an inexpensive and simple method for the diagnosis of α-thalassemia. Its superiority is worth popularizing in the clinical laboratory.