珠蛋白生成障碍性贫血基因型与红细胞参数的关系研究  

Study on correlation between erythrocyte parameters and genotype in patients with thalassemia

作　　者：邹林[1] 黄杰[1] 简咏芬[1] 陈尚花[1] 周少雄[1] 

机构地区：[1]广东省佛山市第二人民医院检验科,528000

出　　处：《检验医学与临床》2014年第20期2862-2864,共3页Laboratory Medicine and Clinic

摘　　要：目的探讨珠蛋白生成障碍性贫血(地贫)基因型与红细胞参数之间的相关性。方法选取2012年2月至2013年6月佛山市第二人民医院315例成年α地贫基因携带者,根据其缺失α基因个数分3组,缺失1个基因者为A组;缺失2个基因者为B组;缺失3个基因者为C组。选取中国人群最常见的4种β-地贫基因突变型的基因携带者165例,分为CD41-42组,IVS2nt654组,-28组,CD17组,及αβ复合型地贫组,选取同期100名健康体检者做对照组,回顾性分析各组红细胞(RBC)参数,采用方差分析及SNK检验比较上述各组间红细胞参数的差异。结果α基因缺失个数与RBC及红细胞分布宽度变异系数(RDW-CV)呈正相关(r=0.872,0.561;P<0.05);与血红蛋白(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)呈负相关(r=-0.708,-0.901,-0.826,-0.735,P<0.05)。β地贫基因型及αβ复合型地贫统计学分析比较显示,RBC、MCHC、RDW-CV在各组间比较,差异无统计学意义(P>0.05);而Hb、MCV、MCH在各组间比较,差异有统计学意义(P<0.05)。结论α地贫的贫血程度与缺失α珠蛋白基因的个数密切相关。而对于中国人群最常见的4种β-地贫基因突变来说,所引起的血液学表型相差不大。Objective To investigate the correlation between the erythrocyte parameters and the genotypes of thalassemia .Methods A total of 315 carriers with various genotypes of a-thalassemia were selected and classified in-to three groups based on the number of gene deletion ,patients with one gene deletion were in group A ,patients with two genes deletion were in group B ,patients with three genes deletion were in group C .A total of 165 adult β-thalas-semia gene carriers were selected and divided into group CD 41-42 ,group IVS2nt654 ,group -28 ,group CD17 and group αβcomplex thalassemia .Other 100 healthy people were selected as control group .The erythrocyte parameters including red blood corpuscle（ RBC） ,Haemoglobin B （Hb） ,mean corpuscular volume（MCV） ,mean corpuscular he-moglobin （MCH） ,mean corpuscular hemoglobin concentration （MCHC） and red cell distribution width-variable co-efficient （RDW-CV ）were retrospectively analyzed and the differences of these indicators among aboved-mentioned groups were compared by analysis of variance and SNK test .Results There were positive correlations between the number of deleted α-globin gene and that of RBC and RDW-CV （r = 0 .872 ,0 .561 ,P〈 0 .05） .Nevertheless ,there was negative correlation between the number of deleted α-globin gene and that of the other erythrocyte indices （r = - 0 .708 ,- 0 .901 ,-0 .826 ,- 0 .735 ,P〈 0 .05） .There was no statistically significant difference on RBC ,MCHC and RDW-CV be-tween the most common four kinds of β-thalassemia and αβ complex thalassemia .Conclusion There would be close correla-tion between the degree of anemia and the number of deleted α-globin gene .Nevertheless ,for the most common four kinds ofβ-globin gene mutations in China ,they cause little difference in haematological phenotype .

关 键 词：α-珠蛋白生成障碍性贫血 αβ复合型珠蛋白生成障碍性贫血 红细胞参数 

分 类 号：R725.5[医药卫生—儿科]