中山市小榄地区β-地中海贫血产前筛查和产前诊断状况
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摘要
目的调查中山市小榄地区地中海贫血产前筛查中夫妻双方β-地中海贫血(简称β-地贫)的基因突变类型、分布特征及产前诊断情况。方法采用血常规结合血红蛋白电泳法对孕妇血样进行地中海贫血产前筛查,对筛查阳性的疑似地贫携带者,采用单管多重跨越断裂点PCR技术和PCR-寡核苷酸探针反向斑点杂交法(PCR-RDB)进行地贫基因检测,地贫基因检测阳性者,则要求召回配偶。如果夫妻双方同时携带β-地贫基因,则建议其做产前诊断。结果产前地中海贫血筛查孕妇22 220名,5 560例地贫血液学表型筛查为阳性,进行地贫基因检测后发现2 621例诊断阳性,其中携带β-地贫基因突变的1 065例,含β复合α地贫突变的138例。有1 164名配偶接受召回进行地贫基因诊断,204例诊断阳性,其中携带β-地贫基因的80例,含β复合α地贫突变的11例。所有个体共检出12种β-地贫基因突变类型,构成比靠前的为CD41-42(-TCTT)突变,分别占48.75%(39/80,男方)和44.41%(473/1 065,女方);其次为CD17(A→T)突变,分别占15.00%(12/80,男方)和19.72%(210/1 065,女方)。夫妻双方为β地贫基因携带者的22对,20对进行产前诊断,9对夫妻的胎儿诊断为重型β地贫;另有2对拒绝产前诊断,随访发现其中1对夫妻生出重型β地贫患儿。结论小榄地区常居人群β-地贫基因携带率较高,地贫产前筛查及产前诊断依从性较差,应加强婚育人群地贫防控相关知识教育,确保所有婚育人群了解重型地贫的危害性及严重性,对开展地贫群体干预和促进优生优育具有重要意义。
Objective To analyze the β- thalassemia spectrum in Xiaolan area in Zhongshan by investigating the genotype of pregnant women and their spouses in the process of prenatal screening and diagnosis. Methods General hematologic detection and hemoglobin electrophoresis for thalassemia was carried out on peripheral venous blood samples of all prenatal women in our hospital. The husband was called back if his wife showed positive result in phenotype screening.Molecular diagnosis towards thalassemia mutations was performed by Gap- PCR and PCR- RDB techniques. If both wife and husband carry the β- thalassemia mutation,prenatal diagnosis was performed. Results 22 220 pregnant women were analyzed. 5 560 women showed positive results in phenotype screening,and 2621 women carried thalassemia mutations confirmed by molecular diagnosis. 1 065 women carried β- thalassemia mutations and 138 of them were compound heterozygote of β and αthalassemia. 1 164 husbands were called back for molecular diagnosis and 204 husbands carried thalassemia mutations. 80 husbands carried β- thalassemia mutations and 11 of them were compound heterozygote of β andαthalassemia. 12 β- thalassemia mutations were detected. The common mutations include CD41- 42(- TCTT)( accounting for 48. 75% in men and 44. 41% in women) and CD17( A→T)( accounting for 15% in men and 19. 72% in women). 22 couples were both carriers of β- thalassemia genes. Prenatal diagnosis was conducted in 20 couples and 9 fetuses were diagnosed to be thalassemia major. 2 couples rejected prenatal diagnosis and one of them gave birth to a thalassemia major baby. Conclusion Carriers of β- thalassemia gene is quite common in Zhongshan,but compliance to prenatal screening and diagnosis of β- thalassemia is poor. Effective prenatal screening plus prenatal diagnosis is important to prevent thalassemia and improve the population quality.
Objective To analyze the β- thalassemia spectrum in Xiaolan area in Zhongshan by investigating the genotype of pregnant women and their spouses in the process of prenatal screening and diagnosis. Methods General hematologic detection and hemoglobin electrophoresis for thalassemia was carried out on peripheral venous blood samples of all prenatal women in our hospital. The husband was called back if his wife showed positive result in phenotype screening.Molecular diagnosis towards thalassemia mutations was performed by Gap- PCR and PCR- RDB techniques. If both wife and husband carry the β- thalassemia mutation,prenatal diagnosis was performed. Results 22 220 pregnant women were analyzed. 5 560 women showed positive results in phenotype screening,and 2621 women carried thalassemia mutations confirmed by molecular diagnosis. 1 065 women carried β- thalassemia mutations and 138 of them were compound heterozygote of β and αthalassemia. 1 164 husbands were called back for molecular diagnosis and 204 husbands carried thalassemia mutations. 80 husbands carried β- thalassemia mutations and 11 of them were compound heterozygote of β andαthalassemia. 12 β- thalassemia mutations were detected. The common mutations include CD41- 42(- TCTT)( accounting for 48. 75% in men and 44. 41% in women) and CD17( A→T)( accounting for 15% in men and 19. 72% in women). 22 couples were both carriers of β- thalassemia genes. Prenatal diagnosis was conducted in 20 couples and 9 fetuses were diagnosed to be thalassemia major. 2 couples rejected prenatal diagnosis and one of them gave birth to a thalassemia major baby. Conclusion Carriers of β- thalassemia gene is quite common in Zhongshan,but compliance to prenatal screening and diagnosis of β- thalassemia is poor. Effective prenatal screening plus prenatal diagnosis is important to prevent thalassemia and improve the population quality.
引文
[1]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].J Clin Pathol,2004,57(5):517-522.
[2]Xiong F,Sun M,Zhang X,et al.Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China[J].Clin Genet,2010,78(2):139-148.
[3]周玉球,商璇,尹保民,等.1998~2010年珠海市地中海贫血大规模人群的遗传筛查和产前诊断结果分析[J].中华妇产科杂志,2012,47(2):90-95.
[4]Penchaszadeh VB,Christianson AL,Giugliani R,et al.Services for the prevention and management of genetic disorders and birth defects in developing countries[J].Community Genet,1999,2(4):196-201.
[5]周玉玲,何淑贞,蒲育栋.东莞地区育龄妇女地中海贫血分子流行病学调查[J].广东医学,2012,33(13):2002-2003.
[6]姚倩瑜,李铭臻,邱建国,等.广东省东莞地区地中海贫血产前筛查及产前诊断体系的建立[J].中国基层医药,2013,20(7):964-966.
[7]黄烁丹,邹婕,蒋玮莹.广东省梅州地区地中海贫血的调查报告[J].广东医学,2004,25(1):82-83.
[8]张新华,黄有文.十二、珠蛋白生成障碍性贫血[M]∥张之南,沈悌.血液病诊断及疗效标准.3版.北京:科学出版社,2007:29-35.
[9]Sin SY,Ghosh A,Tang LC,et al.Ten years'experience of antenatal mean corpuscular volume screening and prenatal diagnosis for thalassaemias in Hong Kong[J].J Obstet Gynaecol Res,2000,26(3):203-208.
[10]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.
[11]王小金,肖鸽飞,郭晓莉,等.广东省珠海市户籍人群中β-地中海贫血的分子流行病学调查[J].中国优生与遗传杂志,2003,11(5):10-11,38.
[12]Pan HF,Long GF,Li Q,et al.Current status of thalassemia in minority populations in Guangxi,China[J].Clin Genet,2007,71(5):419-426.
[13]邹林,周少雄,胡佩村,等.广东佛山地区地中海贫血基因突变类型分析[J].医学检验与临床,2013,24(2):12-13,16.
[14]刘兴梅,苏莉,李贵芳,等.贵州地区β地中海贫血基因突变类型分析[J].中华医学遗传学杂志,2014,31(5):561-563.
[15]李燕,黄善忠,钟伟明.广西贵港地区β-地中海贫血基因突变类型与分布频率的探讨[J].国际检验医学杂志,2013,34(3):325-326.
[16]徐两蒲,黄海龙,王燕,等.福建省籍各地市人群地中海贫血的分子流行病学研究[J].中华医学遗传学杂志,2013,30(4):403-406.
[17]何建维,黄恒柳,张燕.重庆地区地中海贫血基因突变类型分析[J].国际检验医学杂志,2014,35(18):2488-2489.
[18]熊符,娄季武,魏小凤,等.广西地区79例β-地中海贫血复合α-地中海贫血患者血液学特征分析[J].中华血液学杂志,2012,33(10):856-860.
[2]Xiong F,Sun M,Zhang X,et al.Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China[J].Clin Genet,2010,78(2):139-148.
[3]周玉球,商璇,尹保民,等.1998~2010年珠海市地中海贫血大规模人群的遗传筛查和产前诊断结果分析[J].中华妇产科杂志,2012,47(2):90-95.
[4]Penchaszadeh VB,Christianson AL,Giugliani R,et al.Services for the prevention and management of genetic disorders and birth defects in developing countries[J].Community Genet,1999,2(4):196-201.
[5]周玉玲,何淑贞,蒲育栋.东莞地区育龄妇女地中海贫血分子流行病学调查[J].广东医学,2012,33(13):2002-2003.
[6]姚倩瑜,李铭臻,邱建国,等.广东省东莞地区地中海贫血产前筛查及产前诊断体系的建立[J].中国基层医药,2013,20(7):964-966.
[7]黄烁丹,邹婕,蒋玮莹.广东省梅州地区地中海贫血的调查报告[J].广东医学,2004,25(1):82-83.
[8]张新华,黄有文.十二、珠蛋白生成障碍性贫血[M]∥张之南,沈悌.血液病诊断及疗效标准.3版.北京:科学出版社,2007:29-35.
[9]Sin SY,Ghosh A,Tang LC,et al.Ten years'experience of antenatal mean corpuscular volume screening and prenatal diagnosis for thalassaemias in Hong Kong[J].J Obstet Gynaecol Res,2000,26(3):203-208.
[10]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.
[11]王小金,肖鸽飞,郭晓莉,等.广东省珠海市户籍人群中β-地中海贫血的分子流行病学调查[J].中国优生与遗传杂志,2003,11(5):10-11,38.
[12]Pan HF,Long GF,Li Q,et al.Current status of thalassemia in minority populations in Guangxi,China[J].Clin Genet,2007,71(5):419-426.
[13]邹林,周少雄,胡佩村,等.广东佛山地区地中海贫血基因突变类型分析[J].医学检验与临床,2013,24(2):12-13,16.
[14]刘兴梅,苏莉,李贵芳,等.贵州地区β地中海贫血基因突变类型分析[J].中华医学遗传学杂志,2014,31(5):561-563.
[15]李燕,黄善忠,钟伟明.广西贵港地区β-地中海贫血基因突变类型与分布频率的探讨[J].国际检验医学杂志,2013,34(3):325-326.
[16]徐两蒲,黄海龙,王燕,等.福建省籍各地市人群地中海贫血的分子流行病学研究[J].中华医学遗传学杂志,2013,30(4):403-406.
[17]何建维,黄恒柳,张燕.重庆地区地中海贫血基因突变类型分析[J].国际检验医学杂志,2014,35(18):2488-2489.
[18]熊符,娄季武,魏小凤,等.广西地区79例β-地中海贫血复合α-地中海贫血患者血液学特征分析[J].中华血液学杂志,2012,33(10):856-860.