不同突变型β-地中海贫血基因携带者血液学特征分析  

Hematological characteristics of different mutation types of β-thalassemia gene carriers

作　　者：周丽芳 唐芳 徐建华[3] 尚陈宇 刘冬冬[3] 刘持翔[3] 丁海明[3] 

机构地区：[1]佛冈县中医院,广东佛冈511600 [2]广州市人口和计划生育科学研究所,广东广州510410 [3]广东省中医院检验科,广东广州510120

出　　处：《中国热带医学》2014年第6期657-660,共4页China Tropical Medicine

基　　金：广东省人口和计划生育委员会科研项目(No.20132011)

摘　　要：目的探讨佛冈县中医院不同基因突变型β-地中海贫血(简称β-地贫)基因携带者的血液学特征及发生频率。方法应用反向斑点杂交技术检测β-地贫基因突变,用Sysmex血液分析仪测定病人平均红细胞体积(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,应用SPSS统计软件,采用方差分析及多重比较对实验数据进行统计分析。结果215例β-地贫基因携带者中,杂合子213例,占99.06%,双重杂合子1例,占0.47%,纯合子1例,占0.47%。检出12种基因突变类型,以CD41-42,IVS-II-654,-28,CD17,CD27-28等突变型为主,比例分别为43.72%、26.98%、9.77%、7.44%和6.51%,5种突变占94.42%。与对照组相比,β+/β和β0/β的MCV、MCH、MCHC值均有显著降低,RDW值高于对照组,差异有统计学意义(P<0.05)。5种主要突变位点病人的MCV、MCH、MCHC值均低于对照组,RDW值高于对照组,差异有统计学意义(P<0.05)。215例β-地贫MCV/MCH分布情况如下:(1)MCV<78 fl、MCH<27 Pg:94.88%;(2)MCV<80 fl、MCH<27 Pg:95.35%;(3)MCV<82 fl、MCH<27Pg:95.82%;(4)MCV≥82 fl、MCH≥27 Pg:2.79%。结论佛冈县地贫以中国人发病率高的突变类型为主;β-地贫基因携带者血液学特征符合小细胞低色素性贫血,MCV、MCH降低时应高度怀疑地贫可能,但MCV、MCH正常时也不能排除轻型β-地贫。Objective To explore the hematologic characteristics of different mutation types of β-thalassemia gene carriers and the frequency of occurrence. Methods Reverse dot blot hybridization technique was used to detect the mutation types of β-thalassemia gene, and Sysmex blood analyzer was used to measure the patient＇ s hematologic characteristics,such as mean corpuscular volume （MCV）, mean corpuscular hemoglobin（MCH）, mean corpuscular-hemoglobin concentration （MCHC）, and red blood cell distribution width （RDVO. The experimental data was analyzed by using SPSS statistical software. Results In 215 β-thalassemia gene carriers, 213 of them were heterozygote cases, accounted for 99.06%, one double heterozygote case, accounted for 0.47%, and a homozygote case accounted for 0.47%. Twelve mutation genotypes / were detected, mainly including CD41-42, IVS-II-654,-28, CD17, CD27-28, occupied 43.72%, 26.98%, 9.77%, 7.44% and 6.51% respectively. The five mutations accounted for 94.42%. Comparing with control group, the vlues of MCV, MCH and MCHC of β /β and β0/β and five main mutation sites were lower, and RDW value was higher, showing statistically significant differences（P〈0.05）. The values of MCV/MCH of 215 β-thalassemia cases were distributed as follows： 1 ）MCV〈78 fl, MCH〈27 Pg： 94.88%; （2） MCV〈80 fl, MCH〈27 Pg： 95.35%; （3） MCV〈82 fl, MCH〈27 Pg： 95.82%; （4）MCV≥82 fl, MCH≥27 Pg： 2.79%. Conclusions High incidence of mutation gneotypes of β- thalassemia predominate in Fogang county. The hematologic characteristics of β-thalassemia was small-cell low-hemoglobin anemia and thalassemia should be considered in case the values of MCV, MCH were lower though there is the possibility of light β thalassemia when the values of MCV and MCH were nomal.

关 键 词：Β-地中海贫血 血液学 基因型 

分 类 号：R556.61[医药卫生—血液循环系统疾病]