贵州省黔东南州少数民族地区苗族和侗族儿童地中海贫血的筛查及其特点

发布时间：2019-01-05 19:47

【摘要】：目的:探讨贵州省黔东南州少数民族地区苗族和侗族儿童地中海贫血筛查结果和临床特点,阐明地中海贫血的种族差异性。方法:采用多阶段分层随机抽样法筛查贵州省黔东南州苗族和侗族儿童(1 623人)的地中海贫血情况。采用血红蛋白A2(HbA2)和血红蛋白F(HbF)定量分析对入选儿童进行地中海贫血初次筛选,采用酚-氯仿抽提法提取地中海贫血患儿的DNA,采用ASO/RDB-PCR反向点杂交法分析地中海贫血儿童的基因特点。结果:筛查的苗族和侗族儿童1 623人中苗族儿童(938人)检出α型地中海贫血阳性18人,β型地中海贫血阳性36人,阳性检出率为1.92%;侗族儿童(685人)中检出α型地中海贫血阳性13例,β型地中海贫血阳性24例,阳性检出率为3.50%;苗族儿童αβ复合型地中海贫血检出率为1.49%,侗族儿童αβ复合型地中海贫血检出率为4.61%;2个民族儿童中各型地中海贫血检出率比较差异均无统计学意义(P0.05)。--SEA/-αα和-α3.7为α型地中海贫血的主要基因突变类型,CD17/N和CD14-15/N是β型地中海贫血的主要基因突变类型,--SEA/β41-42和--SEA/β17是αβ复合型地中海贫血的主要基因突变类型,2个民族儿童各型地中海贫血的主要突变类型基因阳性率比较差异无统计学意义(P0.05)。结论:贵州省黔东南州苗族和侗族儿童地中海贫血筛查阳性率差异不大,CD17/N、--SEA/-αα及--SEA/β41-42分别为α、β及αβ复合型地中海贫血的主要基因突变类型。
[Abstract]:Objective: to investigate the screening results and clinical characteristics of thalassemia in Miao and Dong minority children in Qiandongnan Prefecture of Guizhou Province and to clarify the racial difference of thalassemia. Methods: the multistage stratified random sampling method was used to screen the children of Miao and Dong nationality (1,623) in Qiandongnan Prefecture of Guizhou Province. Hemoglobin A2 (HbA2) and hemoglobin F (HbF) quantitative analysis were used to screen the children with thalassemia for the first time, and phenol chloroform extraction method was used to extract DNA, from the children with thalassemia. The genetic characteristics of children with thalassemia were analyzed by ASO/RDB-PCR reverse dot hybridization. Results: among the 1,623 children of Miao and Dong nationality, 18 were positive for 伪 -thalassemia and 36 for 尾 -thalassemia. The positive rate was 1.92%. Among the 685 children of Dong nationality, 13 cases were positive for 伪 -thalassemia and 24 cases for 尾 -thalassemia. The positive rate was 3.50%. The positive rate of 伪尾 complex thalassemia in Miao and Dong children was 1.49 and 4.61 respectively. There was no significant difference in the detectable rate of thalassemia among children of two nationalities (P0.05). SEA/- 伪 and 伪 3.7 were the main gene mutation types of thalassemia 伪. CD17/N and CD14-15/N are the main gene mutation types of 尾 -thalassemia, and SEA/ 尾 41-42 and SEA/ 尾 17 are the main mutation types of 伪尾 complex thalassemia. There was no significant difference in gene positive rate of major mutant types of thalassemia between children of two nationalities (P0.05). Conclusion: there is no significant difference in the positive rate of thalassemia screening between Miao and Dong children in Qiandongnan Prefecture, Guizhou Province. CD17/N,--SEA/- 伪 and SEA/ 尾 41-42 are the main gene mutation types of 伪, 尾 and 伪尾 complex thalassemia, respectively.
【作者单位】：贵州医科大学第二附属医院;
【基金】：贵州省科技厅科教青年英才培养工程资助课题[黔省专合字(2012-185)号]
【分类号】：R725.5

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