东莞市地中海贫血基因类型与异常血红蛋白种类调查分析  

Investigation of genotype of thalassemia and hemoglobin variants in Dongguan city

作　　者：彭兰芬[1] 汤惠华[1] 付文金[1] 曾见芬[1] 叶长钦[1] 陈楚填[1] 黄志宏[1] 

机构地区：[1]广东医学院附属厚街医院检验医学中心,广东东莞523945

出　　处：《检验医学与临床》2011年第2期142-144,共3页Laboratory Medicine and Clinic

摘　　要：目的对东莞厚街地区婚前检查、产前检查人群及贫血患者进行血红蛋白(Hb)电泳及基因分型,了解该地区地中海贫血基因携带率、基因类型和异常Hb种类,为Hb分子病的流行病学调查和减少地中海贫血重型患儿出生率提供重要依据。方法采集静脉血液进行血常规分析、Hb电泳、铁蛋白检测筛查,并用Gap-PCR and反向斑点杂交(RDB)法进行基因分型。结果 3 907例成人静脉血标本检出疑似α-地中海贫血453例,经基因诊断为α-地中海贫血328例,基因携带率8.40%;453例疑似α-地中海贫血个体经基因诊断为阴性者116例,联合检测血清铁蛋白,其中107例提示铁蛋白均低于正常参考值,结合血液学参数和临床诊断为缺铁性贫血。检出疑似β-地中海贫血321例,经基因诊断为β-地中海贫血316例,基因携带率8.09%。共检出6种β-地中海贫血基因,其中IVS-Ⅱ-654(C→T)、TATA box-28(A→G)、CD17(A→T)和CD41-42(-TCTT)是东莞地区β-地中海贫血基因的主要类型,共占91.46%,另检出了少见基因型CD14-15(+G)。检出双重杂合子17/βE 1例,IVS-Ⅱ-654/CD41-42 2例,--SEA/IVS--Ⅱ654 1例。检出异常Hb 40例,种类共5种,分别是HbE、HbG、HbK、HbD和HbJ;检出HbG复合α-地中海贫血5例,HbJ复合α-地中海贫血2例。结论东莞地区是地中海贫血高发区,其中α-地中海贫血基因携带率与β-地中海贫血基因携带率相当,β-地中海贫血基因携带率高于广东省其他地区;东莞市人口结构复杂,也是异常Hb病多见地区,所以做好Hb分子病筛查工作有重要意义。Objective To investigate the genotype of thalassemia and hemoglobin variants in Dongguan,in order to provide the hemoglobin molecule disease epidemiology and prevent the birthrates of severe thalassemia.Methods The red blood cell indices analysis,hemoglobin electrophoresis and ferritin were carried out on all of 3 907 samples of renous blood.Gap-PCR and RDB method were used for detecting α-thalassemia genotyping and β-thalassemia genotyping.Results 328 cases were with α-thalassemia（8.76%）,116 cases were negative by Gap-PCR.Among them,107 cases prompted low ferritin;316 cases were with β-thalassemia（8.09%）,TATA box-28（A→G）,CD17（A→T）,CD41-42（-TCTT） were the major genetypes of β-thalassemia in this area.The rare genotype CD14/15（＋ G） was also checked out.There were double heterozygous 17/βE in 1 case,IVS-Ⅱ-654/CD41-42 in 2 cases and—SEA/IVS-Ⅱ-654 in 1 case.There were 40 cases of abnormal hemoglobin,a total of 5 categories,namely HbE,HbG,HbK,HbD and HbJ,while at the same time HbG composite α-thalassemia were checked out in 5 cases,HbJ composite α-thalassemia in 2 cases.Conclusion The high incidence of thalassemia is discovered in Dongguan City,α-thalassemia gene carrier rate and β-thalassemia gene carrier rate are equivalent,β-thalassemia gene carrier rate is higher than that in other areas of Guangdong province.The population structure of Dongguan city is complex,and also more common abnormal hemoglobin diseases have been discovered in this area,so doing the hemoglobin molecule disease screening work has important significance.

关 键 词：地中海贫血 基因型 血红蛋白类 异常 

分 类 号：R556.61[医药卫生—血液循环系统疾病]