广东地区地中海贫血基因携带者全血细胞计数结果分析  

Study on relationship between erythrocyte indices and genotypes of thalassemia in Guangdong

作　　者：梁志洪 王云秀[2] 刘冬冬[2] 陈丹娜[2] 徐建华[2] 黄景春[2] 邱峰[2] 唐芳 

机构地区：[1]广州市番禺区市桥医院检验科,广东广州511400 [2]广东省中医院检验科,广东广州510120 [3]广州市人口和计划生育科学研究所,广东广州510410

出　　处：《热带医学杂志》2014年第7期846-849,共4页Journal of Tropical Medicine

基　　金：广东省人口和计划生育委员会科研项目(20132011)

摘　　要：目的分析广东地区地中海贫血基因携带者全血细胞计数结果。方法选取2011年1月至2013年12月就诊的成年地贫基因携带者:α-地贫(n=245)、β-地贫(n=208)、αβ复合型(n=48);选取同期150名健康体检者作为对照组(NC组)。gap-PCR技术检测缺失型ɑ-地中海贫血基因,反向斑点杂交技术检测β-地贫基因突变,血液分析仪测定病人红细胞(RBC)、血红蛋白(Hb)、平均红细胞体积(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)等血液学特征。结果共检测α-地贫基因携带者245例,β-地贫基因携带者208例,αβ复合型基因携带者48例,合计501例。随着珠蛋白肽链的缺失或变异数目改变,地贫基因携带者各组的RBC和RDW值高于对照组,Hb、MCV和MCH值低于对照组,差异有统计学意义(P<0.05)。α-地贫组的MCV、MCH和RDW值与β-地贫组比较差异有统计学意义(P<0.05),且α-地贫组的女性Hb值与β-地贫组的女性Hb值比较,差异亦有统计学意义(P<0.05),β-地贫组的MCV和MCH值与αβ复合型组比较,差异有统计学意义(P<0.05)。地贫基因携带者MCV和MCH分布情况如下:MCV<78 fl、MCH<27 pg:86.63%;MCV≥82 fl、MCH≥27 pg:5.39%。结论地贫各基因型RBC总体增高,Hb、MCV和MCH呈下降趋势,红细胞体积大小异质性增加。MCV、MCH降低时应高度疑似地贫,但MCV、MCH正常时不能排除地贫基因携带者。Objective Toinvestigate the relationship between erythrocyte indices and genotypes of thalassemia in Guangdong. Methods The alpha-thalassemia gene was detected by gap-PCR technology and β-thalassemia gene was detected by RDB technology.RBC, Hb, MCV, MCH, MCHC and RDW were detected by hematology system. 150 healthy physical examination cases were used as a control group（NC）.The experimental data were analyzed with variance analysis and multiple comparison by SPSS statistical software. Results During January 2011 to December 2013,245 alphathalassemia gene carriers, 208 β-thalassemia gene carriers and 48 αβcompound-thalassemia gene carriers were detected among total 501 cases. With the increase of deleted globin gene numbers, RBC and RDW values were higher than those of the control group, and Hb, MCV, MCH value was lower than those of the control group,which have statistical significance （P〈0.05）.The MCV, MCH and RDW as well as women Hb value of alpha-thalassemia were significantly different from those of beta-thalassaemia （P〈0.05）.The MCV and MCH values of beta-thalassemia were significantly different from those of αβcompound-thalassemia（P〈0.05）.Among the thalassemia patients, 86.63% were MCV〈78 fl and MCH〈27 pg, and 5.39% were MCV≥82 fl and MCH≥27 pg. Conclusions Among the thalassemia patients,RBC was overall increase, while Hb, MCV and MCH had a tendency of decrease, and the heterogeneity of erythrocyte volume was increased. The low level of MCV and MCH may indicate of thalassemia, however it cannot be ruled out thalassemia gene carriers have normal levels of MCV and MCH.

关 键 词：地中海贫血 基因型 全血细胞计数 

分 类 号：R556.61[医药卫生—血液循环系统疾病]