桂林市城镇育龄人群地中海贫血现况调查

目的 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.结果 在1580例受检者中,确定α地贫基因型的有79例,检出率为5.00%,α贫在男女性中检出率分别为5.32%、4.68%,差异无统计学意义(X2=3.04,X2＜X0.05(1)=3.84,P＞0.05);确定β地贫基因型的有114例,检出率为7.22%,β地贫在男女性中检出率分别为7.85%、6.58%,差异无统计学意义(X2=0.95,X2＜X0.05(1)=3.84,P＞0.05);总的地贫检出率为12.22%(193/1580).α地贫共检出10种基因型,以轻型--SEA/αα为主,检出率为3.54%;静止型以-α3.7/αα居多,轻型以--SEA/αα居多,中间型以--SEA/-αCS居多;其构成比分别为7.59%、70.88%、2.53%;B地贫共检出7种基因型,以CD41-42(-TTCT)居多,检出率为3.16%,其中最常见的3种基因型CD41-42(-TTCT)、CDl7(A→T)和IVS-Ⅱ-654(C→T),构成占突变基因的87.71%;β、α复合型地贫检出率为0.63%.结论 桂林市城镇育龄人群地贫检出率较高.

Survey on thalassemia among people of reproductive age in Guilin city,Guangxi,China

Objective To 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.