α-地中海贫血基因诊断和血液学指标分析

Gene diagnosis and blood routine parameter of α-thalassemia in Luzhou

目的分析四川泸州地区α-地中海贫血基因突变类型和血液学指标的关系,探讨血液学指标在α-地贫筛查中的运用价值。方法采用PCR方法结合DNA芯片杂交技术,对135例可疑α-地贫患者进行基因检测分析,根据临床表现和实验室检查分为中间型组(10例)、标准型组(23例)和静止型组(12例)。同时采集同期门诊儿保健康儿童25例作为正常对照组,采用全自动血细胞分析仪分别检测四组小儿血常规红细胞数(RBC)、血红蛋白量(Hb)、平均红细胞体积(MCV)、平均血红蛋白含量(MCH)、平均血红蛋白浓度(MCHC)、红细胞分布宽度(RDW)和网织红细胞比率(RET%)等血液学指标,并进行统计学分析。结果 135例可疑患者中,45例检出α-地贫基因,检出率为33.3%。共检出7种突变基因型,其中--αSEA/αα缺失型占35.57%,-α3.7/αα缺失型占24.44%。血液学指标结果显示,中间型组、标准型组和静止型组α-地贫患儿RBC、Hb、MCV和MCH均较正常对照组明显降低,RDW明显升高,差异有统计学意义;而MCHC和RET与正常对照组比较差异无统计学意义。结论四川泸州地区α-地中海贫血基因突变以--SEA/αα缺失型为主;MCV、MCH和RDW等血液学指标可作为α-地中海贫血的联合筛查指标。

Objective： To analysis the blood routine parameter and genotypes distribution in children with α - thalassemia in luzhou and discuss the feasibility of blood routine parameter as screening examination in the primary diagnosis of α - thalassemia and clinical manifestations. Methods： Gene analysis was conducted among 135 suspicious cases of α -thalassemia by single -tube multi- plex PCR assay and DNA hybridization technique. Partents were classified into three groups based on clinical feature and genotypes. There were intermediate thalassemia trait group （10 cases）, trait thalassemia group （23 cases） and silent thalassemia group （12 ca- ses）. The normal control group included healthy 25 children which have health examination in out - patient clinics in the similar peri- od. RBC, Hb, MCV, MCHC, RDW and RET of these three groups were analyzed statistically. Results： Among 135 suspicious ca- ses of α -thalassemia, 45 cases were found with genotypes of α - thalassemia, the detection rate was 33.3%. 7 types of mutation genotypes were detected, the proportions of - -α^SEA/αα were 35.57%, the proportions of - α^3.7/αα were 24. 44%. Levels of RBC, Hb, MCV and MCH of α - thalassemia three groups were significantly lower than those of normal control group, RDW were sig- nificantly higher than those of normal control group. There were no obvious statistical signficances for MCHC and RET α - thalassemia three groups and normal control. Conclusion： The main gene mutant type of α - thalassemia in Luzhou is deletion type of - - ^SEA/αα. MCV, MCH and RDW can be regarded as eombaination indexes of screeningot - thalassemia.