不同基因突变类型β地中海贫血血液学特征比较

摘要

Objective To analyze the hematologic characteristics of different types of β thalassemia gene mutations,and to explore the gene mutation types and frequencys of β thalassemia in this region.Methods Reverse dot blot hybridization technique was used to detect the gene mutation types of β thalassemia,and Sysmex XE2100 blood analyzer was used to measure the patients' blood for the red blood cells'characteristics,the experimental datas were analyzed by SPSS statistical software.Resulls Two handred and four cases of various types of β thalassemia gene mutation frequency with the former five were:CD41/42 had 96 cases accounted for 47.1%,IVS-nt654 had 45 cases accounted for 22.1%,CD17 had 21 cases accounted for 10.3%,TATAnt-28 had 21 cases accounted for 10.3%,CD71/72 had 6 cases accounted for 3.0%;In the four indicators of Hematology of β thalassemia,MCV and MCH value were significantly lower than that in control group(P＜0.01),and different types of β thatassemia gene mutations were different from each other in the hematologic characteristics,the MCV and MCH of the β0 thalassemia gene mutations was significantly lower than that of β+ thalassemia gene mutations.Conclusions In this region the gene mutation types and ffequencys of β thalassemia were very close to the Guangdong and the National's;the hematologic characteristics of β thalassemia accorded with small-cell low-hemoglobin anemia,the MCV and MCH could be used as the determination of β thalassemia screening basis.%目的 比较分析不同基因突变类型β地中海贫血(简称β地贫)的血液学特征,同时探讨本地区β地贫基因突变类型及发生频率.方法 应用反向斑点杂交技术检测β地贫困基突变,用Sysmex XE2100血液分析仪测定病人全血获取红细胞的平均红细胞容积(MCV)、平均红细胞血红蛋白量(MCH)、平均红细胞血红蛋白浓度(MCHC)、红细胞分布宽度(RDW)血液学特征,应用SPSS统计软件对实验数据进行统计分析.结果 204例β地贫各型基因突变频率排列前5位依次为:CD41/42有96例占47.1%、IVS-nt654有45例占22.1%、CD17有21例占10.3%、TATAnt-28有21例占10.3%、CD71/72有6例占3.0%;β地贫4个血液学指标中MCV和MCH值较正常对照组明显降低(P＜0.0.1),且各类型β地贫血液学特征亦存在差异,β0地贫突变型的MCV和MCH明显低于β+地贫突变型的MCV和MCH.结论 本地区β地贫基因突变类型及频率与广东和全国非常接近;β地贫血液学特征符合小细胞低色素性贫血,MCV和MCH的测定可作为β地贫的临床初筛依据.