广州市花都区育龄人群地中海贫血基因检测结果分析
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摘要
目的了解广州市花都区育龄人群地中海贫血的基因携带率、基因突变类型及分布特征等情况,为建立有效的地贫防控工作提供科学依据。方法通过对2018年1月～2018年9月期间,在广州市花都区妇幼保健院参加免费优生健康检查的4290对夫妇抽取静脉血进行地贫初筛,检查的单方或双方初筛阳性者,均进一步进行相应的地贫基因检查,对地贫基因高风险家庭建立健康管理档案,督促其怀孕后及时进行产前诊断。结果 (1)在4290对(共8580例)受检者中,地贫基因初筛阳性者为共1468对(共2936例),最终确诊为地中海贫血者1295例,检出率为15.09%。α-地中海贫血基因检出率为10.62%,β-地中海贫血基因检出率为3.92%,αβ复合型地中海贫血基因检出率为0.56%。检出常见α-地贫基因型频率前三位依次为--~(SEA)/αα(63.89%)、-α~(3.7)/αα(16.90%)、-α~(4.2)/αα(8.12%);检出常见β地贫基因型频率前三位分别为β41-42(45.24%)、βIVS-II-654(27.68%)、β-28(11.32%);(2)共检测到地贫高风险家庭58户,为其建立健康管理档案,督促怀孕后及时进行产前诊断。结论本研究展示了花都地区地中海贫血基因构成及分布情况,为本地区大力开展地中海贫血防控、遗传咨询和产前诊断工作提供参考。
Objective:To investigate the genotype,constituent ration and distributional characteristics of thalassemia among couples of reproductive age in Huadu district of Guangzhou,to provide a basis for making prevention and control strategies against thalassemia. Methods:4290 couples who participated the project of free health check in Huadu district from January 2018 to September 2018,who received thalassemia screening examination in our hospital. Underwent thalassemia gene detections among people one or the couples with positive result,and prenatal diagnosis was suggested for those carrying the same type of thalassemia gene after pregnancy. Results:(1)1468 couples out of 4290 couples who were detected positive result of thalassemia screening examination,1295 cases were diagnosed as thalassemia,which was the detection rate of 15.09%. Among those diagnosed as α-thalassemia of the detection rate was 10.62%,β-thalassemia of the detection rate was 3.92%% and 48 cases were α and β compound thalassemia of the detection rate was 0.56%. In cases with a-thalassemia,the major genotype was--~(SEA)/αα(63.89%)、the second was-α~(3.7)/αα(16.90%)、the third was-α~(4.2)/αα(8.12%);In cases with β-thalassemia the major genotype was β41-42(45.24%)、βIVS-2-654(27.68%)、β-28(11.32%);(2)58 couples were the thalassemia high-risk,who were established a health management file to supervise and urge them to prenatal diagnosis after pregnancy. Conclusion:This study showed the distribution features of genetic mutation and proportion of thalassemia in Huadu district of Guangzhou, It can provide a valuable reference of prevention and control measures and genetic counselling.
Objective:To investigate the genotype,constituent ration and distributional characteristics of thalassemia among couples of reproductive age in Huadu district of Guangzhou,to provide a basis for making prevention and control strategies against thalassemia. Methods:4290 couples who participated the project of free health check in Huadu district from January 2018 to September 2018,who received thalassemia screening examination in our hospital. Underwent thalassemia gene detections among people one or the couples with positive result,and prenatal diagnosis was suggested for those carrying the same type of thalassemia gene after pregnancy. Results:(1)1468 couples out of 4290 couples who were detected positive result of thalassemia screening examination,1295 cases were diagnosed as thalassemia,which was the detection rate of 15.09%. Among those diagnosed as α-thalassemia of the detection rate was 10.62%,β-thalassemia of the detection rate was 3.92%% and 48 cases were α and β compound thalassemia of the detection rate was 0.56%. In cases with a-thalassemia,the major genotype was--~(SEA)/αα(63.89%)、the second was-α~(3.7)/αα(16.90%)、the third was-α~(4.2)/αα(8.12%);In cases with β-thalassemia the major genotype was β41-42(45.24%)、βIVS-2-654(27.68%)、β-28(11.32%);(2)58 couples were the thalassemia high-risk,who were established a health management file to supervise and urge them to prenatal diagnosis after pregnancy. Conclusion:This study showed the distribution features of genetic mutation and proportion of thalassemia in Huadu district of Guangzhou, It can provide a valuable reference of prevention and control measures and genetic counselling.
引文
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[14]钟泽艳,陈剑虹,贺海林,等.广东省惠州地区基于医院水平的地中海贫血基因突变谱分析[J].中国计划生育学杂志,2015,23(6):371-375.
[15]李良琼,熊见,王长本,等.渝东北区地中海贫血常见基因类型的调查研究[J].国际检验医学杂志,2015,13(6):753-754,757.
[16]张杰,贺静,曾小红,等.云南省人群地中海贫血遗传多样性的研究[J].昆明医科大学学报,2016,37(1):28-34.
[2]徐湘民.地中海贫血预防控制操作指南[M].人民军医出版社,2011,2-7.
[3]石西南.中国不同省区β地中海贫血基因变异的分布特征[J].医学综述,2011,17(4):495-497.
[4]马丽萍.地中海贫血的诊断[J].诊断学理论与实践,2014,13(6):561-565.
[5]Weatherall DJ. Thalassemia as a global health problem:recent progress toward its control in the developing countries[J]. Ann N Y Acad Sci,2010,1202(1):17-23.
[6]Higgs DR,Engel JD,Stamatoyannopoulos G.Thalassaemia[J].Lancet,2012,379(9813):373-383.
[7]Yuan Y,Yuan X,Zhou CQ. Does thalassemia influence ovarian response? An analysis of 127 cycles involving preimplantation genetic diagnosis of thalassemia in southern China[J].J Obstet Gynecol,2016,36(6):1-5.
[8]苏金玉,翟惠敏.β地中海贫血输血治疗的研究进展[J].广东医学,2011,32(15):2063-2065.
[9]Xu XM,Zhou YQ,Luo GX,et al.The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province:implications for the future health burden and population screening[J].Clin Pathol,2004,57(5)517-522.
[10] He S,Qin Q,Yi S,et a1.Prevalence and genetic analysis ofα-andβ-thalassemia in Baise region,a multi-ethnic region in southern China.[J].Gene,2016,619:71-75.
[11] Yao H,Chen X,un L,et a1.The spectrum ofα-andβ-thalassemia mutations of the Li people in Hainan Province of China.[J].Blood cells,Mol Dis,2014,53(1-2):16-20.
[12]刘丽红,余建群,屈艳霞.1642例地中海贫血的产前筛查与产前诊断结果分析[J].中国优生与遗传杂志,2015,23(9):28-29,19.
[13]钟鸣,姜碧,刘惠,姚倩瑜,等.东莞地区26 906对育龄夫妇地中海贫血筛查结果分析[J].中国优生与遗传杂志,2015,23(5):25-26.
[14]钟泽艳,陈剑虹,贺海林,等.广东省惠州地区基于医院水平的地中海贫血基因突变谱分析[J].中国计划生育学杂志,2015,23(6):371-375.
[15]李良琼,熊见,王长本,等.渝东北区地中海贫血常见基因类型的调查研究[J].国际检验医学杂志,2015,13(6):753-754,757.
[16]张杰,贺静,曾小红,等.云南省人群地中海贫血遗传多样性的研究[J].昆明医科大学学报,2016,37(1):28-34.