玉林市新生儿α地中海贫血发生率和基因型分析
摘要
目的分析玉林市新生儿α地中海贫血发生率和基因型,以期实现早诊断、早干预,减少疾病对患儿生长发育的影响。方法选取2014年7月-2017年6月玉林市妇幼保健院收集的2 000例新生儿脐血样品,应用脐血毛细管电泳法分析样本,筛选阳性样本,采用Gap-PCR和PCR结合膜反向杂交技术检测α地中海贫血基因突变类型。结果2 000例新生儿脐血标本中,脐血毛细管电泳法检出阳性标本256例,阳性率为12.80%;Gap-PCR和PCR结合膜反向杂交技术检出阳性标本220例,阳性率为11.00%。检测出的α地中海贫血基因型包括-α~(3.7)/αα、-α~(4.2)/αα、αα/--~(SEA)、-α~(3.7)/--~(SEA)、-α~(4.2)/--~(SEA)、--~(SEA)/--~(SEA)、α~(cs)α/αα、α~(QS)α/αα、α~(ws)α/αα、-α~(4.2)/α~(cs)α、α~(cs)α/--~(SEA)。结论玉林市新生儿α地中海贫血发生率较高,且基因突变类型复杂。
引文
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[2]李友琼,覃桂芳,阳文辉,等.毛细管电泳检测血红蛋白Constant Spring[J].临床检验杂志,2012,30(1):31-32.
[3]唐海深,江陵,陆林苑,等.罕见α-地中海贫血的新生儿筛查与诊断[J].中国产前诊断杂志,2014,7(1):13-17.
[4] Uaprasert N,Settapiboon R,Amornsiriwat S,et al. Diagnostic utility of isoelectric focusing and high performance liquid chromatography in neonatal cord blood screening for thalassemia and non-sickling hemoglobinopathies[J]. Clin Chim Acta,2014,427(1):23-26.
[5]徐湘民.地中海贫血预防控制操作指南[M].北京:人民军医出版社,2011:55-64.
[6] Pharephan S,Sirivatanapa P,Makonkawkeyoon S,et al. Prevalence ofα-thalassaemia genotypes in pregnant women in northern Thailand[J]. Indian J Med Res,2016,143(3):315-322.
[7]屈艳霞,陈桂兰,唐盈,等.广州市非缺失型α-地贫基因诊断和产前诊断结果分析[J].癌变·畸变·突变,2016,28(2):145-148.
[8] Lee TY,Lai MI,Ramachandran V,et al. Rapid detection ofα-thalassaemia variants using droplet digital PCR[J]. Int J Lab Hematol,2016,38(4):435-443.
[9]王游声,郭浩,陈汉彪,等. Sebia电泳仪检测Hb A2在α地中海贫血筛查中的临床应用[J].医学检验与临床,2017,28(1):4-6,12.
[10] Opi DH,Uyoga S,Orori EN,et al. Red blood cell complement receptor one level varies with Knops blood group,α(+)thalassaemia and age among Kenyan children[J]. Genes Immun,2016,17(3):171-178.
[11]唐燕青,陈秋莉,陈碧艳,等. 15 969例轻型α地中海贫血的基因型和血液学分析[J].中国计划生育学杂志,2017,25(1):57-60.
[12]冉健,裴元元,魏凤香.深圳地区α-地中海贫血及αβ-复合地中海贫血的相关性研究[J].中国妇幼保健,2016,31(7):1468-1471.
[13] Kulaphisit M,Kampuansai J,Leecharoenkiat K,et al. A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand[J]. Sci Reports,2017,7(1):4690.
[14]罗宏成,王春芳,向阳,等.广西百色市胎儿羊水地中海贫血基因检测分析[J].暨南大学学报:自然科学与医学版,2015,36(6):520-524.
[15]黄利华,刘冬霞,李伟明,等.广东省清远地区人群α-地中海贫血基因型及临床表型特点[J].第三军医大学学报,2017,39(6):584-588.