海南省琼中县3392名中学生地中海贫血血细胞参数与基因检测结果分析
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摘要
目的研究海南省琼中黎族苗族自治县地中海贫血血细胞参数及基因检测结果,为有效预防和监控该地区地中海贫血提供依据。方法采集海南省琼中县3392名中学生外周血进行血常规、血红蛋白电泳和脆性试验筛查,阳性样本行基因检测,对基因类型、突变频率及血细胞参数等情况进行分析。结果 3392名受检者中,初筛阳性1439例,经基因检测确认阳性1049例,其中单纯α地贫784例(74.7%);单纯β地贫143例(13.6%);α、β复合型地贫为122例(11.6%)。α地贫以αα/-α~(3.7)(33.4%)、αα/-α~(4.2)(31.3%)为主,β地贫中β~(CD41-42)/β~N(76.2%)突变最常见;除HbA和女性血红蛋白外,其它各血细胞参数在健康组、α地贫、β地贫3组间均存在统计学差异(P<0.05);血常规、血红蛋白成分分析联合初筛效果最佳。结论琼中县α、β地贫携带率及基因型分布符合海南地区的基本特点,各类地贫血细胞参数与基因相关性、最适初筛方案均可为该地区的地贫防控工作提供依据。
Objective To investigate the blood cell parameters and gene detection results of thalassemia patients in Qiongzhong County of Hainan Province, and to provide the basis for effectively preventing and monitoring thalassemia in this region. Methods Blood routine, hemoglobin electrophoresis and brittleness test were performed in the peripheral blood samples from 3392 middle school students in Qiongzhong County of Hainan province. Positive samples were used to detect genotype, mutation frequency and blood cell parameters. Results Among the 3392 students, 1439 were positive for initial screening and 1049 were positive for gene identification, of which 784 cases were simple alpha thalassemia genotype(74.7%), 143 cases were simple beta alpha thalassemia genotype(13.6%), and 122 cases were alpha and beta complex genotype(11.6%). The alpha thalassemia genotype is mainly αα/-α~(3.7)(33.4%) and αα/-α~(4.2)(31.3%). β~(CD41-42)/β~N(76.2%) mutation is most common in beta thalassemia genotype. There were statistically significant differences among the healthy control, alpha thalassemia and beta thalassemia in the detection indexes excluding Hb A and female hemoglobin(P < 0.05). The combination of routine blood test, hemoglobin component analysis and primary screening had the best performance. Conclusions The carrying rate and genotype distribution of alpha and beta thalassemia in Qiongzhong County are in accordance with the basic characteristics of Hainan Province. The blood cell parameters, genetic association and optimal primary screening program of each type of thalassemia are able to offer the foundation for preventing and controlling thalassemia in this area.
Objective To investigate the blood cell parameters and gene detection results of thalassemia patients in Qiongzhong County of Hainan Province, and to provide the basis for effectively preventing and monitoring thalassemia in this region. Methods Blood routine, hemoglobin electrophoresis and brittleness test were performed in the peripheral blood samples from 3392 middle school students in Qiongzhong County of Hainan province. Positive samples were used to detect genotype, mutation frequency and blood cell parameters. Results Among the 3392 students, 1439 were positive for initial screening and 1049 were positive for gene identification, of which 784 cases were simple alpha thalassemia genotype(74.7%), 143 cases were simple beta alpha thalassemia genotype(13.6%), and 122 cases were alpha and beta complex genotype(11.6%). The alpha thalassemia genotype is mainly αα/-α~(3.7)(33.4%) and αα/-α~(4.2)(31.3%). β~(CD41-42)/β~N(76.2%) mutation is most common in beta thalassemia genotype. There were statistically significant differences among the healthy control, alpha thalassemia and beta thalassemia in the detection indexes excluding Hb A and female hemoglobin(P < 0.05). The combination of routine blood test, hemoglobin component analysis and primary screening had the best performance. Conclusions The carrying rate and genotype distribution of alpha and beta thalassemia in Qiongzhong County are in accordance with the basic characteristics of Hainan Province. The blood cell parameters, genetic association and optimal primary screening program of each type of thalassemia are able to offer the foundation for preventing and controlling thalassemia in this area.
引文
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7 裴元元,魏凤香,刘秀菊,等.αβ复合型地中海贫血及非缺失型α-地中海贫血患者基因检测的相关研究[J].中国优生与遗传杂志,2013,21(10):20-21.
8 王燕燕,李晓辉,徐西华.地中海贫血诊治进展与我国现状[J].中国实用儿科杂志,2013,28(6):473-476.
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11 林向斌,岑居荣,李治亲,等.海南农村347对有中间型或重型地中海贫血遗传风险夫妇的相关情况调查分析[J].海南医学,2014,25(22):3397-3401.
12 黄道连,袁春雷,冯丹艺.αβ复合型地中海贫血筛查结果分析[J].中国小儿血液与肿瘤杂志,2011,16(5):214-216.
13 阮丽明,周艳洁,朱茂灵,等.αβ复合型珠蛋白生成障碍性贫血的基因型及血液学分析[J].国际检验医学杂志,2013,34(11):1462-1464.
14 吴蓓颖,江岑,王也飞,等.血常规、血清铁及血红蛋白电泳联合检测在地中海贫血非高发地区的筛查意义[J].中华血液学杂志,2016,37(10):908-911.
15 Galanello R,Origa R.Beta-thalassemia[J].Orphanet J Rare Dis,2010,5:11.
16 敖东,李梅桂,唐元红,等.阳江地区地贫初筛(血常规法)阳性家庭发生率与地贫基因检测结果的调查研究[J].中国医药科学,2015,5(7):205-207.
17 孔庆铸,袁春雷,彭建明,等.新生儿血常规指标在珠蛋白生成障碍性贫血筛查中的应用价值研究[J].国际检验医学杂志,2016,37(21):2985-2986.
18 曾思强,向华国,曾锦婷,等.血常规参数联合红细胞脆性在珠蛋白生成障碍性贫血初筛中的应用研究[J].检验医学与临床,2014,11(6):787-788.
19 陈红英,胡晓,刘文君.β-珠蛋白生成障碍性贫血患儿血常规参数和基因检测结果分析[J].中国小儿血液与肿瘤杂志,2011,16(5):207-209.
2 张继业,李晓娟,符生苗.海南省地中海贫血基因频率分析[J].海南医学,2016,27(8):1228-1230.
3 李兵.广东省地中海贫血流行及防控现状评价[D].广东:南方医科大学,2015.
4 区采莹,王传文.海南343名黎族小学生α-地中海贫血基因型调查[J].海南医学,1999,10(2):112-113.
5 周代锋,蔡望伟,蔡兰洁,等.海南省黎族人4种β地中海贫血基因突变的研究[J].海南医学院学报,2001,7(1):4-7.
6 甘冰,黄伟媚.αβ复合型地中海贫血基因检测分析[J].临床荟萃,2014,29(2):200-201.
7 裴元元,魏凤香,刘秀菊,等.αβ复合型地中海贫血及非缺失型α-地中海贫血患者基因检测的相关研究[J].中国优生与遗传杂志,2013,21(10):20-21.
8 王燕燕,李晓辉,徐西华.地中海贫血诊治进展与我国现状[J].中国实用儿科杂志,2013,28(6):473-476.
9 赵振东,王洁,刘秀莲,等.海南省本土居民地中海贫血的筛查分析[J].海南医学,2012,23(16):120-121.
10 姚红霞,吴智明,吴从明,等.海南黎族成人血红蛋白含量及地中海贫血基因频率的调查[J].中国热带医学,2004,4(5):699-700.
11 林向斌,岑居荣,李治亲,等.海南农村347对有中间型或重型地中海贫血遗传风险夫妇的相关情况调查分析[J].海南医学,2014,25(22):3397-3401.
12 黄道连,袁春雷,冯丹艺.αβ复合型地中海贫血筛查结果分析[J].中国小儿血液与肿瘤杂志,2011,16(5):214-216.
13 阮丽明,周艳洁,朱茂灵,等.αβ复合型珠蛋白生成障碍性贫血的基因型及血液学分析[J].国际检验医学杂志,2013,34(11):1462-1464.
14 吴蓓颖,江岑,王也飞,等.血常规、血清铁及血红蛋白电泳联合检测在地中海贫血非高发地区的筛查意义[J].中华血液学杂志,2016,37(10):908-911.
15 Galanello R,Origa R.Beta-thalassemia[J].Orphanet J Rare Dis,2010,5:11.
16 敖东,李梅桂,唐元红,等.阳江地区地贫初筛(血常规法)阳性家庭发生率与地贫基因检测结果的调查研究[J].中国医药科学,2015,5(7):205-207.
17 孔庆铸,袁春雷,彭建明,等.新生儿血常规指标在珠蛋白生成障碍性贫血筛查中的应用价值研究[J].国际检验医学杂志,2016,37(21):2985-2986.
18 曾思强,向华国,曾锦婷,等.血常规参数联合红细胞脆性在珠蛋白生成障碍性贫血初筛中的应用研究[J].检验医学与临床,2014,11(6):787-788.
19 陈红英,胡晓,刘文君.β-珠蛋白生成障碍性贫血患儿血常规参数和基因检测结果分析[J].中国小儿血液与肿瘤杂志,2011,16(5):207-209.