中国福建地区1474例地中海贫血基因检测结果分析
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摘要
目的:了解福建地区人群α、β地中海贫血基因的携带率及基因突变的类型,分析不同类型地中海贫血在血红蛋白A2(HbA2)、平均红细胞体积(MCV)和平均红细胞血红蛋白含量(MCH)中的差异性,为其筛查分类、基因诊断、遗传咨询提供参考,以提高人群的优生质量。方法:送检福建各区、县样本,总计1 474例,采用单管多重聚合酶链反应(PCR)结合反向点杂交法(RDB)进行地中海贫血基因检测。各组标本送检前已完成外周血的血红蛋白指数、MCV和MCH测定,即进行了地中海贫血的初筛。结果:在检测1 474例样本中,共检出704例地中海贫血(47.76%),其中α地中海贫血416例(28.22%),β地中海贫血267例(18.11%),α复合β地中海贫血21例(1.43%)。而α地中海贫血细分为3类,分别为静止型(5.09%),轻型(22.18%),中间型(0.95%),在对其HbA2、MCV和MCH的检测结果进行统计分析时发现呈明显的下降趋势,差异显著(P<0.05)。结论:福建地区α、β地中海贫血基因突变类型存在明显的遗传异质性,α地中海贫血以基因型--SEA/αα为主,β地中海贫血以IVS-Ⅱ-654为主,且在α地中海贫血的分类中,中间型的贫血指标显示最为明显,显著区别于其他类型。
Objective: To investigate the gene-carrying rate and gene mutation types of α-and β-thalassemia in population of Fujian area and to analyze the differences in hemoglobin A2(HbA2), mean cell volume(MCV) and mean cell hemoglobin(MCH) between different types of thalassemia, so as to provide the reference basis for screening and classification, genetic diagnosis and counseling about thalassemia. Methods: Total 1474 samples from different areas of Fujian province were detected for α-and β-thalassemsia genotypes by gap single PCR(GS-PCR) combined with reverse dot blot hybridization(RDB). The detection of peripheral RBC, hemoglobin and primary screening of thalassemia in each set of sample were carried out before test. Results: Among the detected 1474 samples, 704(47.76%) were diagnosed asα-thalassemia, out of them 416(28.22%) were diagnosed as α-thalassemia, 267(18.11%) as β-thalassemia, 21(1.43%)as αβ-thalassemia. The α-thalassemia further was divide into 3 types: silent(5.09%), minor(22.18%) and HbH disease(0.95%), and their MCV, MCH and HbA2 levels were detected. The detection results showed obvious decrease trend with significant difference(P<0.05). Conclusion: The gene mutation types of thalassemia display obvious heterogenity in Fujian area. The gene type in α-thalassemia mostly is--SEA/αα, the gene type in β-thalassemia mostly is IVS-Ⅱ-654.Moreover, the sings of anemia in Hb H disease of α-thalassemia are mostly serious, which obviously are different from other types of α-thalassemia.
Objective: To investigate the gene-carrying rate and gene mutation types of α-and β-thalassemia in population of Fujian area and to analyze the differences in hemoglobin A2(HbA2), mean cell volume(MCV) and mean cell hemoglobin(MCH) between different types of thalassemia, so as to provide the reference basis for screening and classification, genetic diagnosis and counseling about thalassemia. Methods: Total 1474 samples from different areas of Fujian province were detected for α-and β-thalassemsia genotypes by gap single PCR(GS-PCR) combined with reverse dot blot hybridization(RDB). The detection of peripheral RBC, hemoglobin and primary screening of thalassemia in each set of sample were carried out before test. Results: Among the detected 1474 samples, 704(47.76%) were diagnosed asα-thalassemia, out of them 416(28.22%) were diagnosed as α-thalassemia, 267(18.11%) as β-thalassemia, 21(1.43%)as αβ-thalassemia. The α-thalassemia further was divide into 3 types: silent(5.09%), minor(22.18%) and HbH disease(0.95%), and their MCV, MCH and HbA2 levels were detected. The detection results showed obvious decrease trend with significant difference(P<0.05). Conclusion: The gene mutation types of thalassemia display obvious heterogenity in Fujian area. The gene type in α-thalassemia mostly is--SEA/αα, the gene type in β-thalassemia mostly is IVS-Ⅱ-654.Moreover, the sings of anemia in Hb H disease of α-thalassemia are mostly serious, which obviously are different from other types of α-thalassemia.
引文
1 Aliki L,Petros P,Constancions D,et al.β-Thalassemia and ocular implications:a systematic review.BioMed Central,2016;16(12):102-115.
2杨阳,张杰.中国南方地区地中海贫血研究进展.中国实验血液学杂志,2017;25(1):276-280.
3徐两蒲,黄海龙,何德钦,等.福建地区孕妇α地中海贫血基因突变类型及产前诊断.实用妇产科杂志,2011;27(11):860-863.
4梁洪焕.血常规红细胞参数检验在地中海贫血和缺铁性贫血鉴别诊断中的应用价值.实用检验医师杂志,2015;7(4):241-242.
5刘萍,黄俊高.江西赣南地区18704例地中海贫血产前筛查结果分析.中国现代医生,2018;56(6):16-19.
6华仙丽,李敬河,梁爱芬,等.东莞地区831例地中海贫血基因检测结果分析.实验与检验医学,2018;36(2):171-173.
7李红萍,李培培,张轩,等.MCV与MCH联合血红蛋白电泳筛查常见地中海贫血.检验医学,2015;30(7):703-706.
8陈文强,陈萍,庞丽红,等.广西地区地中海贫血基因Hb Westmead突变情况及其临床、地域和民族分布特点.山东医药,2014;54(48):19-21.
9周代锋,王政,蔡兰洁,等.海南省汉、黎族人群缺失型α-地中海贫血的研究.中国热带医学,2006;6(9):1549-1551.
10夏威夷,谭蓉,覃西.海南地区αβ复合型地中海贫血的基因型和血液型研究.中国妇幼保健,2015;30(14):2251-2254.
11杜丽,尹爱华,张彦,等.2171例地中海贫血产前基因诊断回顾性分析.国际妇产科学杂志,2012;39(2):208-210.
12 Thein SL.Genetic insights into the clinical diversity of beta thalassemia.Br J Haematol,2014;124(3):264-274.
13杜伟,欧阳小峰,甘承文,等.重庆地区8024例地中海贫血筛查结果及地贫基因型分析.重庆医科大学学报,2014;39(05):694-697.
14王燕燕,李晓辉,徐西华.地中海贫血诊治进展与我国现状.中国实用儿科杂志,2013;28(6):473-476.
2杨阳,张杰.中国南方地区地中海贫血研究进展.中国实验血液学杂志,2017;25(1):276-280.
3徐两蒲,黄海龙,何德钦,等.福建地区孕妇α地中海贫血基因突变类型及产前诊断.实用妇产科杂志,2011;27(11):860-863.
4梁洪焕.血常规红细胞参数检验在地中海贫血和缺铁性贫血鉴别诊断中的应用价值.实用检验医师杂志,2015;7(4):241-242.
5刘萍,黄俊高.江西赣南地区18704例地中海贫血产前筛查结果分析.中国现代医生,2018;56(6):16-19.
6华仙丽,李敬河,梁爱芬,等.东莞地区831例地中海贫血基因检测结果分析.实验与检验医学,2018;36(2):171-173.
7李红萍,李培培,张轩,等.MCV与MCH联合血红蛋白电泳筛查常见地中海贫血.检验医学,2015;30(7):703-706.
8陈文强,陈萍,庞丽红,等.广西地区地中海贫血基因Hb Westmead突变情况及其临床、地域和民族分布特点.山东医药,2014;54(48):19-21.
9周代锋,王政,蔡兰洁,等.海南省汉、黎族人群缺失型α-地中海贫血的研究.中国热带医学,2006;6(9):1549-1551.
10夏威夷,谭蓉,覃西.海南地区αβ复合型地中海贫血的基因型和血液型研究.中国妇幼保健,2015;30(14):2251-2254.
11杜丽,尹爱华,张彦,等.2171例地中海贫血产前基因诊断回顾性分析.国际妇产科学杂志,2012;39(2):208-210.
12 Thein SL.Genetic insights into the clinical diversity of beta thalassemia.Br J Haematol,2014;124(3):264-274.
13杜伟,欧阳小峰,甘承文,等.重庆地区8024例地中海贫血筛查结果及地贫基因型分析.重庆医科大学学报,2014;39(05):694-697.
14王燕燕,李晓辉,徐西华.地中海贫血诊治进展与我国现状.中国实用儿科杂志,2013;28(6):473-476.