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目的:分析深圳地区β-地中海贫血的基因分布及其血常规参数变异情况,探讨血常规参数在β-地中海贫血筛查中的可行性。方法:依血红蛋白电泳、β-地贫基因分析和血清铁蛋白测定结果,将171例血常规结果分为β-地贫、缺铁贫和正常对照3个组。对3组血常规结果中的血红蛋白量(HGB)、平均红细胞体积(MCV)、红细胞体积分布宽度变异系数(RDW)、平均血小板体积(MPV)和血小板体积分布宽度变异系数(PDW)5项参数进行统计分析。结果:171例标本中有115例为β-地贫基因突变,共检出9种突变类型,其中以41-42M/N,654M/N,17M/N,-28M/N4种突变为主,占突变的92.17%。HGB结果对照组>β-地贫组>缺铁贫组;MCV与PDW在β-地贫和缺铁贫2个组间的结果差异无统计学意义,但2者均低于对照组。MPV在对照组最高,缺铁贫组稍低,β-地贫组最低;RDW缺铁贫组>β-地贫组>对照组。结论:HGB、MCV、MPV、RDW和PDW参数对β-地中海贫血和缺铁性贫血具有一定的诊断价值,可作为β-地中海贫血的联合筛查指标。
OBJECTIVE: To analyze the genetic distribution of β-thalassemia in Shenzhen and its variation of blood parameters, and to explore the feasibility of blood parameters in the screening of β-thalassemia. Methods: According to the results of hemoglobin electrophoresis, β-thalassemia gene and serum ferritin, 171 blood routine results were divided into three groups: β-thalassemia, iron deficiency deficiency and normal control. Five parameters of HGB, MCV, RDW, MPV and PDW in three groups of blood routine results were obtained. conduct statistical analysis. Results: Of the 171 specimens, 115 were found to be β-thalassemia mutations. Nine mutations were found, of which 41-42 M / N, 654 M / N, 17 M / N, -28 M / Accounting for 92.17% of the mutation. HGB results in the control group> β-thalassemia group> iron deficiency poor group; MCV and PDW in the two groups of β-thalassemia and iron deficiency difference between the two groups showed no significant difference, but both were lower than the control group. MPV was the highest in the control group, slightly lower in the iron-deficient group, the lowest in the β-thalassemia group, the poor in the RDW group, the β-thalassemia group, and the control group. CONCLUSION: The parameters of HGB, MCV, MPV, RDW and PDW have certain diagnostic value in β-thalassemia and iron-deficiency anemia, which can be used as a combined screening index of β-thalassemia.