文章摘要
张新华,周英杰,李平萍,罗瑞贵,阮丽明,王荣新,吴志奎,李敏,黄有文.广西南宁市农村育龄人群地中海贫血筛查及基因型和血液学参数分析[J].中华流行病学杂志,2006,27(9):769-772
广西南宁市农村育龄人群地中海贫血筛查及基因型和血液学参数分析
Study on the screening program of thalassemia and the genotype and hematologic parauneter among people of productive age in a village, Nanning Guangxi
收稿日期:2006-03-03  出版日期:2014-09-15
DOI:
中文关键词: 地中海贫血  平均红细胞体积  平均红细胞血红蛋白含量  基因型
英文关键词: Thalassemia  Mean corpuscular volume  Mean corpuscular hemoglobin  Genotype
基金项目:国家自然科学基金资助项目(90409003);广西壮族自治区自然科学基金资助项目(0447104)
作者单位
张新华 南宁,解放军第三0三医院血液科 530021 
周英杰 南宁,解放军第三0三医院血液科 530021 
李平萍 南宁,解放军第三0三医院血液科 530021 
罗瑞贵 南宁,解放军第三0三医院血液科 530021 
阮丽明 南宁,解放军第三0三医院血液科 530021 
王荣新 南宁市计划生育服务中心 
吴志奎 南宁市计划生育服务中心 
李敏 中国中医科学院广安门医院分子生物学研究室 
黄有文 中国中医科学院广安门医院分子生物学研究室 
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中文摘要:
      目的调查南宁市农村育龄人群地中海贫血(地贫)基因携带率和基因型,分析地贫血液学参数变化特点.方法以血红蛋白(Hb)自动分析仪-VARIANT(HPLC)和Cell Dyn 1700全自动血细胞分析仪检测育龄青年2044例,其中430例(地贫筛查中随机选择的75对夫妇以及血细胞分析提示夫妇双方或一方为地贫表型阳性的育龄夫妇140对)同步进行地贫基因分析.结果检出β地贫163例,β地贫基因携带率7.97%,检出HbH病13例,Hb Manitoba 2例,HbJ 2例,HbQ 1例.α地贫2基因型以-α3.7/αα、-αCS/αα和-αWS/αα居多,α地贫1以--SEA/αα为主,β地贫杂合子以41-42为主,α、β复合型地贫有较高的检出率.所有HbH病和β地贫平均红细胞体积(MCV)和平均红细胞Hb含量(MCH)均降低,86例α地贫1中除1例MCH正常外均降低,而66例α地贫2中17例MCV和MCH均正常,69例β地贫杂合子中有32例HbF增高,但没有一例只有HbF增高而HbA2不增高,α、β复合型地贫主要呈现β地贫血液学特点.结论南宁市农村育龄人群地贫基因携带率高,-αWS/αα和-αCS/αα基因型α地贫2较多,高发区MCV和MCH降低应疑为地贫.
英文摘要:
      Objective To investigate the carrier ratio and the genotype of thalassemia in the rural people of reproductive age in Manning, and to analyze the characteristics of hematologic parameter in thalassemia carriers. Methods 2044 cases of productive age youths were detected with hemoglobin autoanalyse-Variant (HPLC) and Cell Dyn 1700 automatic hemocyte analysator. Arr.ong them,430 cases(75 couples randomly selected in thalassemia screening, 140 couples who were told that one or both of them were positive for thalassemia phenotype through hemocyte analysis) carried out thalassemia gene detection in synchronism. Results 163 cases were detected (β-thalassemia and the thus (β-thalassemia carrier ratio was 7. 97%.13 cases were detected HbH disease, and 2 cases Hb Manitoba, 2 cases HbJ, and 1 case HbQ. As for genotypes,一α/αα,-αCS/αα and一αWS/αα were common ones with in α一th alassemia-2,一SEA-αα the most common one in a-thalassemia-1,and 41-42 were the most common ones in (β-thalassemia heterozygotes. The detection ratio of α,βcombination thalassemia was also relatively hi,;h. Mean corpuscular volume (MCV) and mean corpuscular hemoglobin(MCH) were low in all cases of HbH disease andβ-thalassemia,also low in 86 cases of α-thalassemia-1 with the exception of normal MCH in 1 case, yet normalin 17 cases out of 66 cases ofα一thalassemia-2. HbF raised in 32 cases out of 69 cases of (β- thalassemia heterozygote, no case showed raised HbF without the raise of HbA}.Hematologic characteristic of α,βcombination thalassemia was mainly caused byβ一thalassemia. Conclusion Carrier ratio of thalassemia in rural productive age youths in Manning was high while a-thalassemia-2 with the genotype一α/αα,-αCS/αα and一αWS/αα as were common. To those with low MCV and MCH in high-risk region, thalassemia should be suspected.
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