| 摘要: |
| ［摘要］ 目的 通过对广西地区几种常见地贫基因型的血常规参数，即平均红细胞体积(mean corpuscular volume，MCV)、平均红细胞血红蛋白量(mean corpuscular hemoglobin，MCH)和血红蛋白电泳检测结果进行对比，探索数值差异与基因型之间的相关性。方法 采用Gap-PCR法进行α地贫(缺失型)基因检测，采用反向斑点杂交法进行α地贫(非缺失型)和β地贫的基因检测；使用全自动血细胞分析仪进行血细胞分析；使用全自动毛细管电泳仪测定血红蛋白各项指标。结果 研究发现静止型α地贫中αQSα/αα基因型的MCV、MCH最低；轻型α地贫中--SEA/αα基因型血液学表现最为严重，差异有统计学意义（P<0.05）。轻型α地贫和中间型α地贫HbA2减少，而轻型β地贫及复合型地贫HbA2增加，差异有统计学意义（P<0.05）。Hb CS带仅出现在αCSα/αα、-α3.7/αCSα、--SEA/αCSα等含有CS点突变的基因型中，但αCSα/αα&βCDs41-42/βN却未表现出Hb CS带，差异有统计学意义（P<0.05）。在中间型α地贫（血红蛋白H病）中，--SEA/αCSα、--SEA/-α4.2和--SEA/-α3.7三种基因型血红蛋白电泳结果均呈现不同程度的Hb-H带，而--SEA/αWSα中却并未发现血红蛋白电泳Hb-H带，差异有统计学意义（P<0.05）。复合型地贫（轻型α+轻型β）同复合型地贫（静止型α+轻型β）相比，其贫血程度较轻，差异有统计学意义（P<0.05）。结论 MCV、MCH和血红蛋白电泳的结果与基因表型有一定的相关性，对于临床医师在进行地贫遗传咨询时有很好的指导意义，对于地贫防控也具有重要意义。 |
| 关键词: 地中海贫血 基因型 平均红细胞体积 平均红细胞血红蛋白量 血红蛋白电泳 |
| DOI：10.3969/j.issn.1674-3806.2017.05.08 |
| 分类号:R 556.6+1 |
| 基金项目: |
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| Analysis of differences in detection parameters of MCV, MCH and hemoglobin electrophoresis parameters between the genotypes of thalassemia in Guangxi |
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WANG Wen-jie, CHEN Fa-qin, WANG Lin, et al
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Guangxi Medical University, Nanning 530021, China
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| Abstract: |
| ［Abstract］ Objective To compare the differences in the blood parameters of MCV, MCH and hemoglobin electrophoresis between the genotypes of thalassemia in Guangxi and to explore the correlation between the numerical differences and genotypes.Methods α-thalassemia(deletion type) gene was detected by Gap-PCR method. α-thalassemia(non-deletion type) and β-thalassemia were measured by reverse dot blotting. Blood cell analysis was performed by a fully automated blood cell analyzer. The parameters of hemoglobin were measured by automatic capillary electrophoresis.Results The results showed that MCV and MCH of αQSα/αα genotype were the lowest in static α-thalassemia, and the hematology of --SEA/αα genotype was the most serious in light α-thalassemia（P<0.05）. Light α-thalassemia and intermediate α-thalassemia HbA2 decreased, while light β-thalassemia and complex thalassemia HbA2 increased（P<0.05）. Hb CS band appeared only in genotypes containing CS point mutations such as αCSα/αα, -α3.7/αCSα and --SEA/αCSα, but αCSα/αα & βCDs41-42 / βN did not exhibit Hb CS bands（P<0.05）. In the intermediate α-thalassemia(hemoglobin H disease), --SEA/αCSα, --SEA/-α4.2 and --SEA/-α3.7 genotype hemoglobin electrophoresis results showed different degrees of Hb H, but the hemoglobin electrophoresis Hb H band was not found in the --SEA/αWSα（P<0.05）. The compound type of thalassemia(light α + light β) had milder anemia than the compound thalassemia(static type α + light β)（P<0.05）.Conclusion The results of MCV, MCH and hemoglobin are relevant to the gene phenotypes,which is clinically significant to prevent and control thalassemia. |
| Key words: Thalassemia Genotypes Mean corpuscular volume(MCV) Mean corpuscular hemoglobin(MCH) Hemoglobin electrophoresis |
