血红蛋白S病17例临床与实验诊断分析

目的:总结17例血红蛋白S病(HbS)各种分型的实验数据,以提高临床实验室诊断各类型HbS的水平。方法:对所有病例行血常规检测并作Hb区带定量;采用红细胞镰变试验、红细胞高铁血红蛋白还原试验(MHb-RT)和葡萄糖-6-磷酸脱氢酶/6-磷酸葡萄糖酸脱氢酶(G6PD/6PGD)的直接比值法(紫外比值法)检测G6PD缺陷症。结果:所检测的17例HbS患者中新生儿4例,儿童和成人共13例。发现杂合子16例,纯合子1例,其中HbS合并α-Thal状态者4例。新生儿或成人患者与正常组比较,在血常规和Hb电泳中都有明显区别。17例HbS患者中有6例同时合并G6PD缺陷症。结论:HbS为正色素性贫血。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,若2种遗传病集于一身,将会加重贫血症状。

Clinical and laboratory diagnosis of hemoglobin S: 17 cases

Objective To summarize the laboratory data of various types of hemoglobins (Hb S) patients found in China. Methods The routine blood test detected by full automatic hemocyte analyzer (SYSMEX NE 1500 OF THE EAST ASIA COMPANY OF JAPAN) and the hemoglobin zone quantitative determination detected by full automatic rapid electrophoresis(REP) system(HELENA company of U.S.A) and its pH8.6 agar gel reagent were performed. The sickling test, the erythrocyte methemoglobin reduction test (MHb-RT) and the G6PD/6PGD enzyme direct ratio (UV direct ratio) were detected for G6PD deficiency. Results Among 17 cases of Hb S ( 4 neonates and 13 children and adults ), 16 cases of heterozygote and 1 case of hemozygote were found. And 4 cases had Hb S complicated with a-Thal. Significant difference was shown on the routine blood test and the Hb electrophoresis between the neonates or adults and the controls. Six out of the 17 cases of Hb S complicated simultaneously with G6PD deficiency. Conclusions Hb S is a type of normochromic anemia. The Hb zone quantitative deternination is an important way for diagnosis. The sickling test is a diagnostic method in difference of Hb S and Hb D. The incidence of G6PD deficiency is rather high among the Hb S patients with African origin. The symptoms of anemia would deteriorate if the two genetic diseases appear simultaneously in one patient.