α-地中海贫血产前筛查及基因型分析  

Study on prenatal screening and genotype analysis of α-thalassemia

作　　者：陈延娥[1] 郭广洲[2] 张宇英[2] 张仁利[3] 朱高云[3] 

机构地区：[1]北京大学深圳医院,广东深圳518020 [2]深圳市第五人民医院(原深圳罗湖医院)中心实验室,广东深圳518020 [3]深圳市疾病控制中心,广东深圳518020

出　　处：《中国热带医学》2007年第4期504-505,共2页China Tropical Medicine

摘　　要：目的了解7962例产前孕妇α-地中海贫血产前筛查及基因多态性,分析深圳地区人群中α-地中海贫血的发生率及突变基因构成比。方法通过红细胞脆性试验、平均红细胞容积(MCV)、平均红细胞血红蛋白(MCH)、平均红细胞血红蛋白浓度(MCHC)、血红蛋白A2(HbA2)、抗碱血红蛋白F(HbF)对产前检查的7962例孕妇进行α-地中海贫血产前筛查,并对疑似α-地中海贫血者采用单管四重PCR进行基因诊断。结果7962例受检者中筛查阳性957例,筛查阳性率12.02%,经单管四重PCR检测,α-地中海贫血基因阳性439例,阳性率5.51%,其中α地贫东南亚缺失型(基因型:--SEA/αα)384例(87.47%),右缺失型(基因型:-α-3.7/αα)28例(6.38%),左缺失型(基因型:-α-4.2/αα)19例(4.33%),缺失型HbH病(基因型:--SEA/-α-3.7或—SEA/-α-4.2)8例(1.82%)。结论加强深圳市育龄妇女的α-地中海贫血筛查,尤其是少见型的检查,对防止重度地中海贫血患儿的出生具有重要意义。Objective To investigate the incidence of α - thalassemia and the distribution of the main three types of α - tha- lassemia gene in Shenzhen region. Methods Samples from 7 962 lying - in women in Luohu Hospital of Shenzhen testing were tested. Mean corpuscle volume（MCV）, mean corpuscle hemoglobin（MCH）, mean corpuscle hemoglobin concentration（MCHC）, hemoglobin A2 （Hb A2）, anti - alkali - resistant hemoglobin F（ Hb F） For α - thalassemia were determined by means of hematologic examinations such as fully automatic hemoglobin agarose gel electrophoresis mainly. Then 103 of the 427 positive samples were diagnosed by means of ＂a single tube multiplex PCR based the gap PCR principle＂. Results 957 out of the 4 990 samples were positive, showing that the incidence of o - thalassemia was 8. 56% . The incidence of Hb H disease was 1.36% （68 of 4990） and occupied 17. 53% of the carriers （68 oF 427）. There 128 samples of 427 （32.99%） were diagnosed by finding Hb Bartps in hemoglobin agarose gel electrophoresis. All the 103 samples were identified as follows： 70 cases were genotype - ^SEA/αα, 19 were -^ SEA/-α317, 5 were -^SEA/_α412 and αα/-0.317, respectively, 2 were αα/- α412 and - α412/- α412, respectively, So the constituent ratios of the type of gene deletions were calculated as the follows： -^SEA was 72.87%, - α317 was 18.60% and - α412 was 8.53%. Conclusion The α- thalassemia is prevalent in this area and it is recommended that more attention be paid to the detection of α - thalassemia in childhood by hematologic screening and common genic diagnosis.

关 键 词：产前筛查 Α-地中海贫血 基因型 

分 类 号：R556.61[医药卫生—血液循环系统疾病]