地中海贫血患者的基因型和血液学分析
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摘要
目的结合基因型以及血液学的分析,对筛查不同临床表型的地贫提供较为准确的依据。方法 154例符合研究要求的地中海贫血患者,按照其临床表型分为α地中海贫血(n=52)、β地中海贫血(n=48)和α地中海贫血复合β地中海贫血(n=54),对其基因型、血液学特点、血红蛋白电泳等进行检测分析,比较其不同表型之间的差异。结果α地中海贫血中--SEA/αα(23,44. 23%)基因型数量最多;β地中海贫血中CD41-42M/N (21,43. 75%)基因型数量最多;α地中海贫血复合β地中海贫血中--SEA/αα with CD41-42M/N(21,38. 89%)基因型数量最多。不同临床表型地中海贫血患者父母血液相关生化指标含量的比较中,三种临床表现型地中海贫血患者父亲和母亲HbA2、MCV、MCH、HbA2、HGB、RDW等指标比较差异有统计学意义(P <0. 05);不同临床表型地中海贫血患者血红蛋白电泳结果的比较,3组患者单独HbF正常或升高、HbA2降低数量比较差异有统计学意义(P <0. 05)。结论地中海贫血患者基因型和血液型的检测分析结合血红蛋白电泳能够较为准确的反应患者地中海贫血的临床表型,为临床筛查与防治地中海贫血工作提供了更为科学准确的依据,具有较大的临床的应用意义。
Objective To provide more accurate bases for screening different clinical phenotypes of thalassemia by analysing the genotype combined with hematological characteristics of patients with thalassemia. Methods A total of 154 patients with mediterranean anemia who were treated in our hospital were enrolled in the study. According to the clinical phenotypes,these patients were divided into alpha thalassaemia group( n = 52),beta thalassaemia group( n = 48) and alpha combined with beta thalassaemia group( n = 54). The genotype and hematological characteristics as well as hemoglobin electrophoresis were analyzed to compare the differences between different phenotypes. Results The SEA/alpha( 23,44. 23%) genotypes in alpha thalassemia group were the most,and the genotypes of cd41-42m/N( 21,43. 75%) in beta thalassaemia group were the most,moreover,the SEA/αα with CD41-42M/N( 21,38. 89%) genotypes in alpha combined with beta thalassaemia group were the most. There were significant differences in Hb A2,MCV,MCH,HbA2,HGB,RDW in the three kinds of clinical phenotypes thalassaemia between patient's father and mother( P < 0. 05). Moreover the hemoglobin electrophoresis results showed that there was significant difference in normal HbF,elevated HbF or decreased HbA2 among the three groups( P < 0. 05). Conclusion The analysis of genotype and blood type in patients with thalassemia combined with hemoglobin electrophoresis can reflect more accurately the clinical phenotype of patients with thalassemia,which can provide more scientific and accurate bases for clinical screening and prevention of mediterranean anemia.
Objective To provide more accurate bases for screening different clinical phenotypes of thalassemia by analysing the genotype combined with hematological characteristics of patients with thalassemia. Methods A total of 154 patients with mediterranean anemia who were treated in our hospital were enrolled in the study. According to the clinical phenotypes,these patients were divided into alpha thalassaemia group( n = 52),beta thalassaemia group( n = 48) and alpha combined with beta thalassaemia group( n = 54). The genotype and hematological characteristics as well as hemoglobin electrophoresis were analyzed to compare the differences between different phenotypes. Results The SEA/alpha( 23,44. 23%) genotypes in alpha thalassemia group were the most,and the genotypes of cd41-42m/N( 21,43. 75%) in beta thalassaemia group were the most,moreover,the SEA/αα with CD41-42M/N( 21,38. 89%) genotypes in alpha combined with beta thalassaemia group were the most. There were significant differences in Hb A2,MCV,MCH,HbA2,HGB,RDW in the three kinds of clinical phenotypes thalassaemia between patient's father and mother( P < 0. 05). Moreover the hemoglobin electrophoresis results showed that there was significant difference in normal HbF,elevated HbF or decreased HbA2 among the three groups( P < 0. 05). Conclusion The analysis of genotype and blood type in patients with thalassemia combined with hemoglobin electrophoresis can reflect more accurately the clinical phenotype of patients with thalassemia,which can provide more scientific and accurate bases for clinical screening and prevention of mediterranean anemia.
引文
1陈文伟,庄丑菊.孕妇七项血液指标在东南亚型α-地中海贫血诊断、筛查中的价值分析.现代诊断与治疗,2017,28:470-472.
2 El Rafei A,De Simone DC,De Simone CV,et al.Beta-haemolytic streptococcal endocarditis:clinical presentation,management and outcomes.Infect Dis(Lond),2016,48:373-378.
3赵芳,何小洪,程静,淦鑫,等.广州地区1571例胎儿地中海贫血产前基因型与血液学特征分析.实用医学杂志,2016,32:3562-3565.
4林娜,黄海龙,王燕,等.泰国缺失型α地中海贫血1的基因诊断和临床血液学表型分析.中国实验血液学杂志,2016,24:1116-1120.
5吴洪秋,陈兴,李桦,等.血液学指标对儿童不同类型地中海贫血并IDA的临床价值.中国热带医学,2016,16:811-814.
6 Khrustalev VV,Barkovsky EV,Khrustaleva TA.Magnesium and manganese binding sites on proteins have the same predominant motif of secondary structure.J Theor Biol,2016,395:174-185.
7谭冬梅,许芳梅,叶志权,等.孕妇七项血液指标诊断东南亚型α-地中海贫血的价值.海南医学,2016,27:760-763.
8左凌燕,何泽真,车显,等.长寿区孕期人群珠蛋白生成障碍性贫血血液学筛查及基因检测的研究.重庆医学,2015,44:4370-4372.
9玉晋武,韦媛,林彩娟,等.HbH病复合β-地中海贫血患者血液学与基因型分析.中国妇幼保健,2015,30:5424-5426.
10李爱敏,唐曙明,陈海霞,等.血液学初筛表型阴性的孕妇地中海贫血基因检测结果分析.实验与检验医学,2015,33:576-577,591.
11唐燕青,陈秋莉,陈碧艳,等.不同基因型新生儿地中海贫血的血液学特征分析.中国妇幼保健,2015,30:4345-4347.
12梁玉全,周远青,刘巧媛,等.性别、年龄及基因缺陷类型对β地中海贫血患者血液学指标的影响.广东医学,2015,36:2546-2548.
13巫福娟,张小庄,罗先琼,等.脐血血液学指标筛查α-地中海贫血的意义.中国妇幼保健,2015,30:3267-3269.
14 Wilde SC,Treitz C,Keppler JK,et al.Lactoglobulin as nanotransporterPart II:Characterization of the covalent protein modification by allicin and diallyl disulfide.Food Chem,2016,5:1022-1029.
15吴杰,曾海燕.血液学分析联合基因诊断在地中海贫血产前诊断中的应用.国际检验医学杂志,2015,36:604-605,607.
16阙婷,李旺,李东明,等.孕早期胎儿地中海贫血基因型与血液学表型和产前诊断适应证的遗传研究.实用妇产科杂志,2014,30:435-439.
17 Masisi K,Beta T,Moghadasian MH.Antioxidant properties of diverse cereal grains:A review on in vitro and in vivo studies.Food Chem,2016,5:90-97.
18温晓文,吴迪炯,叶宝东,等.铁过载与血液系统造血紊乱的相关研究进展.临床血液学杂志,2013,26:815-818.
19李莉艳,李强,宋兰林,等.69例αβ复合型地中海贫血的血液学和基因型研究.实用妇产科杂志,2011,27:378-382.
2 El Rafei A,De Simone DC,De Simone CV,et al.Beta-haemolytic streptococcal endocarditis:clinical presentation,management and outcomes.Infect Dis(Lond),2016,48:373-378.
3赵芳,何小洪,程静,淦鑫,等.广州地区1571例胎儿地中海贫血产前基因型与血液学特征分析.实用医学杂志,2016,32:3562-3565.
4林娜,黄海龙,王燕,等.泰国缺失型α地中海贫血1的基因诊断和临床血液学表型分析.中国实验血液学杂志,2016,24:1116-1120.
5吴洪秋,陈兴,李桦,等.血液学指标对儿童不同类型地中海贫血并IDA的临床价值.中国热带医学,2016,16:811-814.
6 Khrustalev VV,Barkovsky EV,Khrustaleva TA.Magnesium and manganese binding sites on proteins have the same predominant motif of secondary structure.J Theor Biol,2016,395:174-185.
7谭冬梅,许芳梅,叶志权,等.孕妇七项血液指标诊断东南亚型α-地中海贫血的价值.海南医学,2016,27:760-763.
8左凌燕,何泽真,车显,等.长寿区孕期人群珠蛋白生成障碍性贫血血液学筛查及基因检测的研究.重庆医学,2015,44:4370-4372.
9玉晋武,韦媛,林彩娟,等.HbH病复合β-地中海贫血患者血液学与基因型分析.中国妇幼保健,2015,30:5424-5426.
10李爱敏,唐曙明,陈海霞,等.血液学初筛表型阴性的孕妇地中海贫血基因检测结果分析.实验与检验医学,2015,33:576-577,591.
11唐燕青,陈秋莉,陈碧艳,等.不同基因型新生儿地中海贫血的血液学特征分析.中国妇幼保健,2015,30:4345-4347.
12梁玉全,周远青,刘巧媛,等.性别、年龄及基因缺陷类型对β地中海贫血患者血液学指标的影响.广东医学,2015,36:2546-2548.
13巫福娟,张小庄,罗先琼,等.脐血血液学指标筛查α-地中海贫血的意义.中国妇幼保健,2015,30:3267-3269.
14 Wilde SC,Treitz C,Keppler JK,et al.Lactoglobulin as nanotransporterPart II:Characterization of the covalent protein modification by allicin and diallyl disulfide.Food Chem,2016,5:1022-1029.
15吴杰,曾海燕.血液学分析联合基因诊断在地中海贫血产前诊断中的应用.国际检验医学杂志,2015,36:604-605,607.
16阙婷,李旺,李东明,等.孕早期胎儿地中海贫血基因型与血液学表型和产前诊断适应证的遗传研究.实用妇产科杂志,2014,30:435-439.
17 Masisi K,Beta T,Moghadasian MH.Antioxidant properties of diverse cereal grains:A review on in vitro and in vivo studies.Food Chem,2016,5:90-97.
18温晓文,吴迪炯,叶宝东,等.铁过载与血液系统造血紊乱的相关研究进展.临床血液学杂志,2013,26:815-818.
19李莉艳,李强,宋兰林,等.69例αβ复合型地中海贫血的血液学和基因型研究.实用妇产科杂志,2011,27:378-382.