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β-地中海贫血的基因分布及其血常规参数变异分析 被引量:9

Study on gene distribution and blood routine test parameter variation in β-thalassemia patients
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摘要 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 make an analysis of gene distribution and blood routine test parameters in β thalassemia gene carriers, and discuss the feasibility of blood routine test parameter analysis in the diagnosis of β-thalassemia. Methods:According to the results of hemoglobin electropboresis, β-thalassemia gene analysis and blood serum ferritin determination,171 blood routine results were classified into β-thalassemia group, Iron Deficiency Anemia group and normal control group. HGB, MCV, RDW, MPV and PDW of these three groups were analyzed statistically. Results:Among 117 blood routine results, 115 were detected as β-thalassemia gene mutation with nine kinds of mutation. Most of them were 41-42M/N,654 M/N, 17M/N or -28M/N mutation type, accounting for 92. 17 %. The concentration of HGB was highest in the normal control group, while the lowest in the Iron Deficiency Anemia group. There were no obvious statistical significances for MCV and PDW results between the β- thalassemia group and Iron Deficiency Anemia group, though the results of them were lower than those in normal group. Normal group got the highest result in MPV analysis, but lowest in RDW analysis. While β- thalassemia group got lowest in MPV analysis generally. Conclusion: HGB, MCV, MPV, RDW and PDW parameter analysis are helpful for the diagnosis of β-thalassemia and Iron Deficiency Anemia and can be regarded as combined indexes of screening β-thalassemia.
作者 李彬 彭常军
出处 《临床血液学杂志(输血与检验)》 CAS 2009年第2期183-184,188,共3页 Journal of Clinical Hematology(Blood Transfusion & Laboratory Medicine)
关键词 Β-地中海贫血 缺铁性贫血 血常规 血红蛋白电泳 β-thalassemia iron deficiency anemia(IDA) blood routine hemoglobin electrophoresis
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