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目的:分析广东地区地中海贫血(地贫)合并G6PD缺陷症的检出率及其血液学特点。方法:用基因芯片技术检测α及β珠蛋白基因缺陷,用硝基四氮唑蓝(NBT)定量法测定红细胞G6PD/6PGD比值检测G6PD缺陷症。结果:①143例地贫患儿当中检测出15例(10.5%)G6PD缺陷症。②各型地贫合并G6PD缺陷症患儿红细胞的平均红细胞容积(MCV)明显高于各型未合并G6PD缺陷症的地贫患儿。③αβ复合型地贫同时又合并G6PD缺陷症患儿的各项红细胞参数均正常。结论:地贫合并G6PD缺陷症在广东地区有较高的检出率,各型地贫合并G6PD缺陷症患儿的血液学表现不同于单纯地贫患儿。
Objective: To analyze the prevalence and hematological characteristics of thalassemia (thalassemia) with G6PD deficiency in Guangdong area. Methods: The gene defects of α and β globin genes were detected by gene chip technique. The G6PD / 6PGD ratio of erythrocytes was determined by nitroblue tetrazolium blue (NBT) quantitative assay to detect G6PD deficiency. Results: ①14 cases of children with thalassemia were detected in 15 cases (10.5%) of G6PD deficiency. ② The average erythrocyte volume (MCV) of erythrocytes in children with all types of thalassemia complicated with G6PD deficiency was significantly higher than those in children with thalassemia. ③αβ composite thalassemia combined with G6PD deficiency in children with all the parameters of red blood cells were normal. Conclusion: The detection rate of thalassemia complicated with G6PD is high in Guangdong Province. The hematological manifestations of children with thalassemia complicated G6PD deficiency are different from those of children with simple thalassemia.