地中海贫血合并G6PD缺陷症血液学特点

The hematological study of the thalassemia children accompanied with G6PD deficiency

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 investigate the prevalence and hematological characterization of the thalassemia children with G6PD deficiency. Methods： α and β globin gene mutations were detected by microarray technique. G6PD deficiency was screened by the quotient of G6PD/6PGD which was quantified by NBT test. Results： ①Fifteen cases （10. 5% ） in one hundred and forty - three thalassemia children were identified to accompany with G6PD deficiency.②The mean corpuscular volume （MCV） of these children were higher than that of thalassemia children. ③The αβ- thalassemia children accompanied with G6PD deficiency had normal red cell indices. Conclusion： ①The prevalence of the thalassemia accompanied with G6PD deficiency in Guangdong province is relatively frequent. ②The hematological phenotype of these children is different from that of thalassemia children.