镰状细胞病合并G6PD缺陷症五例临床分析  

Clinical analysis of 5 cases of sickle cell disease combinded G6PD deficiency

作　　者：谢庆芳[1] 李菊香[1] 苏运钦[1] 尹更生[1] 谭润平[1] 

机构地区：[1]曁南大学附属第一医院临床检验中心,广东广州510630

出　　处：《中国优生与遗传杂志》2010年第8期123-124,96,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的总结5例血红蛋白S病(HbS)各类实验数据,为临床提供实验诊断,预防新生儿的严重并发症。方法血常规检测,全自动血红蛋白电泳,G6PD/6PGD直接比值法,G6PD/6PGD全自动生化仪日立7600检测G6PD缺陷症。结果检测5例HbS患者,发现合并a地贫1例,4例合并G6PD缺陷症。结论 Hb电泳区带定量是诊断HbS的重要方法。镰变试验是鉴别HbS与HbD的确诊试验。G6PD缺陷症在非洲裔HbS患者中有较高的发生率,如果同时合并2种遗传病会加重贫血症状。Objective：Summary the laboratory datas of 5 cases of Hemoglobin S disease（HbS） patients,to provide experimental evidence of diagnosis for the clinic,and prevent serious complications in neonate at an early date.Methods：Routine blood test and henoglobin electrophoresis were carried on to detect the blood samples of the 5 patients.Glucose-6-phosphate dehydrogenease（G6PD） was detect simultaneously by G6PD/6PGD ultraviolet ratio assay and automatic biochemical analyzer to identify the G6PD deficiency in the 5 blood samples.Results：Among the five cases of HbS patients,1 csae was found combined α-thalassemia,and 4cases combined G6PD deficiency.Conclusions：HbS is a type of normochromic anemia.The Hb zone quantitative determination is an important way for diagnosis.The sickling test is a diagnostic method in difference of HbS and HbD.The incidence of G6PD deficiency is rather high among the HbS patients with African otigin.The symptoms of anemia would deteriorate if the two genetic diseases appear simultaneously in one patient.

关 键 词：镰状细胞病(SCD) 血红蛋白S(HbS) G6PD缺陷症 

分 类 号：R556.71[医药卫生—血液循环系统疾病]