| 邓俊耀,龙安翼,李慧.桂林市城镇育龄人群地中海贫血现况调查[J].中华流行病学杂志,2009,30(2):156-158 |
| 桂林市城镇育龄人群地中海贫血现况调查 |
| Survey on thalassemia among people of reproductive age in Guilin city,Guangxi,China |
| 收稿日期:2008-06-12 出版日期:2014-09-18 |
| DOI： |
| 中文关键词: 地中海贫血 育龄人群 现况调查 |
| 英文关键词: Thalassemia People ofreproductive age Cross-sectional study |
| 基金项目:浙江省科技厅课题资助项目(2004C33046) |
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| 中文摘要: |
| 调查桂林市城镇育龄人群地中海贫血(地贫)的现况。方法用红细胞平均容积(MCV)和血红蛋白电泳法对所有调查对象进行地贫筛查，对筛查出疑为α地贫或β地贫标本进一步采用PCR结合反向点杂交法(ROB)进行基因检测，以检出地贫基因来确诊。 |
| 英文摘要: |
| study the present situation of thalassemia among people at reproductive age in Guilin city.Methods A complete red blood eell mean cell volume(RBCMCV)was detected as well as hemoglobin electrophoresis analysis were done for all samples.Suspected αorβ thalassemia cases,wcTe screened out and a and β thalassemia genes were detected by PCR-RDB.Results Among 1580 cases,79 Cases were detected α thalassemia gene positive.with the detection rateas 5.00%.The detection rates on α thalassemia were 5.32%.4.68%in males and females,but no significant difference(X2=3.04,X2＜X0.05(1)=3.84,P＞0.05).114 cases were detected carrying β thalassemia gene with the detection rate as 7.22%.The detection rates on β thalassemia were 7.85%,6.58%in males and females,with no significant difference(X2=0.95,X2＜X0.05(1)=3.84,P＞0.05).The overall detection rate of thalassemia was 12.22%(193/1580).α halassemia were found to have had ten genotypes.with-α3.7/αα the most common one and the detection rate was 3.54%.--SEA/αα appeared the majority in the static α thalassemia and --SEA/αα took the majority in the light α thalassemia,while--SEA/-αCS was the major one in the intermedia α thalassemia,with gene conwibutions of 7.59%,70.88%and 2.53%.β halassemia was detected having seven genotypes,with CD41-42(-TTCT)the most commoll one in B thalassemia,and the detection rate was 3.1 6%.11he commonly seen three mutations,CD41-42(-TTCT),CDl7(A→T)and IVS-Ⅱ-654(C→T)were accounted for 87.71%of β thalassemia.The detection rate on thalassemia α and β combination was 0.63%.Conclusion The detection rate of thalassemia among people at productive age in Guilin city was relatively high. |
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