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目的探究阳西县围婚、围产期夫妇地中海贫血基线调查结果。方法回顾性分析阳西县11674例围婚、围产期夫妇地中海贫血筛查相关资料。结果初筛阳性率为19.06%,地中海贫血基因总携带率为10.23%,其中α-地中海贫血基因携带率为7.14%,β-地中海贫血基因携带率为2.78%,α、β复合地中海贫血携带率为0.31%。结论对本地区围婚、围产期夫妇进行地中海贫血筛查和基因检测对降低地中海贫血患儿出生,减少出生缺陷,提高地区人口质量有重要的实用意义。
Objective To investigate the baseline survey results of thalassemia and perinatal couples in Yangxi County. Methods A retrospective analysis of 11,674 cases of perinatal couples thalassemia screening in Yangxi County was conducted. Results The positive rate of primary screening was 19.06%, and the total carrier rate of thalassemia was 10.23%. The carrier rate of α-thalassemia gene was 7.14%, the gene carrier rate of β-thalassemia was 2.78%, the carrier rate of α, β-thalassemia 0.31%. Conclusion The screening and genetic testing of thalassemia in perinatal and perinatal couples in this area are of great practical significance in reducing birth defects, birth defects and population quality in children with thalassemia.