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| 23809例育龄人群地中海贫血筛查与血液学分析 | |
| 引用本文： | 李颖丰,周晖登,杨万伟. 23809例育龄人群地中海贫血筛查与血液学分析[J]. 中国优生与遗传杂志, 2011, 0(9): 118-119,127 |
| 作者姓名： | 李颖丰 周晖登 杨万伟 |
| 作者单位： | 广西壮族自治区妇幼保健院检验科;广西壮族自治区崇左市妇幼保健院检验科; |
| 摘 要： | 目的了解育龄人群中地中海贫血（地贫）携带情况及其血液学特点,为地贫出生干预及筛查方法的完善提供依据。方法 23 809例育龄人群进行地贫初筛,对红细胞脆性或（和）平均容积低于正常值者进行血红蛋白电泳分析,根据初筛及电泳结果进行基因诊断。结果 23 809例育龄人群中,地贫初筛阳性5147例,血红蛋白分析筛出可疑α地贫3523例、β地贫1624例。地贫基因检测确诊α地贫2435例,包括合并β地贫103,1877例α地贫-1,462例α地贫-2,96例HbH病;β地贫1492例,包括HbE61例,249对夫妇可能生育中、重型地贫儿。少数地贫者血红蛋白水平正常,部分HbH和HbCS病血红蛋白电泳无特殊区带,β地贫合并α地贫双重杂合子表现为β地贫特点,各类地贫间血红蛋白水平、MCV、血红蛋白电泳结果及RBC脆性比较差异均有统计学意义（P〈0.05）。结论掌握地贫患者血液学特点,选择合理的筛查模式对育龄人群进行常规筛查,对高危者进行基因检测是干预重症地中海贫血患儿出生的有效措施。 |
| 关 键 词： | 育龄人群 地中海贫血 筛查 基因诊断 |
Analysis on screening and hematological of thalassemia among 23 809 peoples reproductive age. |
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| LI Ying-feng,ZHOU Hui-deng,YANG Wang-wei.. Analysis on screening and hematological of thalassemia among 23 809 peoples reproductive age.[J]. Chinese Journal of Birth Health & Heredity, 2011, 0(9): 118-119,127 | |
| Authors: | LI Ying-feng ZHOU Hui-deng YANG Wang-wei. |
| Affiliation: | LI Ying-feng1,ZHOU Hui-deng1,YANG Wang-wei2.(1.Department of Clinical Laboratory,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530003,China,2.Department of Clinical Laboratory,Chongzuo Maternity and Child Health Hospital,Chongzuo 532200,China) |
| Abstract: | Objective: To investigate the carrier rate of thalassemia(thal) and its hematological features among peoples reproductive age in order to provide scientific basis for birth defect intervention.Methods: The screening of thal were performed by red cell mean corpuscular volume(MCV) and red blood cell(RBC) osmotic fragility test among 23 809 peoples reproductive age,then hemoglobin electrophoresis analysis was done for all positive samples.Those suspectable thal sufferers were further confirmed by genetic diagn... |
| Keywords: | Reproductive populations Thalassemia Screening Genetic diagnosis |
| 本文献已被 CNKI 维普 等数据库收录！ | |