成都地区β珠蛋白生成障碍性贫血基因携带合并妊娠患者的基因型及表现型分析
|
摘要
目的探讨四川成都地区β珠蛋白生成障碍性贫血(原名地中海贫血,简称地贫)基因携带合并妊娠患者的基因型及表现型参数差异。方法选取2016年3月至2017年6月在该院建档的320例β地贫基因携带合并妊娠的患者。对所有患者进行血常规、碱性血红蛋白电泳、地贫常规β基因检测,并对各组数据进行统计学分析。结果β杂合突变306例,共有10种突变类型;合并α地贫的β突变14例,有6种不同组合。各组突变在血常规参数,如平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)、平均红细胞血红蛋白浓度(MCHC)、血红蛋白浓度(Hb)值均表现出一定的差异性。每种突变的异常条带发生率也不同,而βEM突变电泳结果均含有异常带。CAP+40-+43(简称CAPM)突变的临床表现不明显,容易漏诊。结论成都地区地贫基因的携带有一定的地区特异性,应在初筛中有针对性的检查,进而做好产前诊断,降低重型地贫患儿出生率。
Objective To investigate the differences in genotypes and phenotypic parameters ofβ-thalassemia gene carriers in pregnant women′s from Chengdu,Sichuan Province.Methods Totally 320 pregnant women′s withβ-thalassemia gene from March 2016 to June 2017 in our hospital were selected.Routine blood tests,alkaline hemoglobin electrophoresis and routine analysis ofβ-thalassemia were performed on all the cases.Statistical analysis was performed on the data of each group.Results There were 306 cases of heterozygousβmutations and 10 types of mutations,among which 14 cases ofα-thalassemia combined had 6 types of mutations.The mutations of MCV,MCH,MCHC,and Hb in the routine blood tests of each group showed some differences.The incidence of abnormal bands was also different for each mutation,and the hemoglobin electrophoresis results ofβEM mutations contained abnormal bands.However,the clinical manifestations of CAPM mutations were not obvious and easily missed.Conclusion There is a certain regional specificity inβthalassemia gene carrying in Chengdu area.Targeted examination in the preliminary screening and prenatal diagnosis should be conducted so as to reducing the birth rate of children′s with severe thalassemia.
Objective To investigate the differences in genotypes and phenotypic parameters ofβ-thalassemia gene carriers in pregnant women′s from Chengdu,Sichuan Province.Methods Totally 320 pregnant women′s withβ-thalassemia gene from March 2016 to June 2017 in our hospital were selected.Routine blood tests,alkaline hemoglobin electrophoresis and routine analysis ofβ-thalassemia were performed on all the cases.Statistical analysis was performed on the data of each group.Results There were 306 cases of heterozygousβmutations and 10 types of mutations,among which 14 cases ofα-thalassemia combined had 6 types of mutations.The mutations of MCV,MCH,MCHC,and Hb in the routine blood tests of each group showed some differences.The incidence of abnormal bands was also different for each mutation,and the hemoglobin electrophoresis results ofβEM mutations contained abnormal bands.However,the clinical manifestations of CAPM mutations were not obvious and easily missed.Conclusion There is a certain regional specificity inβthalassemia gene carrying in Chengdu area.Targeted examination in the preliminary screening and prenatal diagnosis should be conducted so as to reducing the birth rate of children′s with severe thalassemia.
引文
[1]李永莉,王丹妹,催开媚,等.妊娠合并地中海贫血与弓形体病相关性的临床分析[J].中国妇幼保健,2015,30(4):517-518.
[2]徐湘民.珠蛋白生成障碍性贫血预防控制操作指南[M].北京:人民军医出版社,2011:25-30.
[3] KWONG Y L,HA S Y,CHAN V.Hematological practice in HongKong,China[J].Hematol Oncol Clin North Am,2016,30(2):445-456.
[4]刘兴梅,苏莉,李贵芳,等.贵州地区重型β地中海贫血基因突变类型分析[J].贵阳医学院学报,2014,41(4):407-409.
[5]杜伟,欧阳小峰,甘承文,等.重庆地区8 024例地中海贫血筛查结果及地贫基因型分析[J].重庆医科大学学报,2014,3(5):694-697.
[6]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.
[7]刘玲,蒋玮莹,许世艳,等.广东地区地中海贫血致病基因的基因型及β珠蛋白基因多态性研究[J].中华血液学杂志,2013,34(7):595-599.
[8]刘富华,贾艺聪,陈洁晶,等.广西地区13 589例地中海贫血筛查结果及基因突变类型分析[J].临床血液学杂志,2015,28(6):966-969.
[9]玉玲,雷力民,黄伟.2 650例育龄期妇女地中海贫血的筛查结果分析[J].重庆医学,2014,43(31):4232-4234.
[10]陈红英,邹艳,刘春艳,等.四川泸州地区贫血患儿地中海贫血筛查和基因诊断结果分析[J].中国儿童保健杂志,2013,21(11):1139-1141.
[11]葛世军,禹崇飞,杨必清,等.云南省德宏地区154例地中海贫血的基因型研究[J].中华临床医师杂志,2014,8(3):385-390.
[12]COUSENS N E,GAFF C L,DELATYCKI M B,et al.Prenatalβ-thalassemia carrier screening in Australia:healthcare professionals′perspectives of clinical practice[J].Prenat Diagn,2014,34(3):246-250.
[13]LIN M,WEN Y F,WU J R,et al.Hemoglobinopathy:molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region,southern China[J].PLoS One,2013,8(2):e55024.
[14]胡青萍,彭忠胜,催俏梅,等.茂名市电白地区地中海贫血患者血液学指标和基因型分析[J].中国优生与遗传杂志,2015,23(4):34-35.
[15]MA E S,CHAN A Y,HA S Y,et al.Thalassemia screening based on red cell indices in the Chinese[J].Haemato logiea,2001,86(12):1310-1311.
[2]徐湘民.珠蛋白生成障碍性贫血预防控制操作指南[M].北京:人民军医出版社,2011:25-30.
[3] KWONG Y L,HA S Y,CHAN V.Hematological practice in HongKong,China[J].Hematol Oncol Clin North Am,2016,30(2):445-456.
[4]刘兴梅,苏莉,李贵芳,等.贵州地区重型β地中海贫血基因突变类型分析[J].贵阳医学院学报,2014,41(4):407-409.
[5]杜伟,欧阳小峰,甘承文,等.重庆地区8 024例地中海贫血筛查结果及地贫基因型分析[J].重庆医科大学学报,2014,3(5):694-697.
[6]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.
[7]刘玲,蒋玮莹,许世艳,等.广东地区地中海贫血致病基因的基因型及β珠蛋白基因多态性研究[J].中华血液学杂志,2013,34(7):595-599.
[8]刘富华,贾艺聪,陈洁晶,等.广西地区13 589例地中海贫血筛查结果及基因突变类型分析[J].临床血液学杂志,2015,28(6):966-969.
[9]玉玲,雷力民,黄伟.2 650例育龄期妇女地中海贫血的筛查结果分析[J].重庆医学,2014,43(31):4232-4234.
[10]陈红英,邹艳,刘春艳,等.四川泸州地区贫血患儿地中海贫血筛查和基因诊断结果分析[J].中国儿童保健杂志,2013,21(11):1139-1141.
[11]葛世军,禹崇飞,杨必清,等.云南省德宏地区154例地中海贫血的基因型研究[J].中华临床医师杂志,2014,8(3):385-390.
[12]COUSENS N E,GAFF C L,DELATYCKI M B,et al.Prenatalβ-thalassemia carrier screening in Australia:healthcare professionals′perspectives of clinical practice[J].Prenat Diagn,2014,34(3):246-250.
[13]LIN M,WEN Y F,WU J R,et al.Hemoglobinopathy:molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region,southern China[J].PLoS One,2013,8(2):e55024.
[14]胡青萍,彭忠胜,催俏梅,等.茂名市电白地区地中海贫血患者血液学指标和基因型分析[J].中国优生与遗传杂志,2015,23(4):34-35.
[15]MA E S,CHAN A Y,HA S Y,et al.Thalassemia screening based on red cell indices in the Chinese[J].Haemato logiea,2001,86(12):1310-1311.