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重型地中海性贫血是一种严重的输血依赖性疾病。常见的5种印度β-地中海性贫血90%以上发生了基因突变,且突变类型是β0/β+。但在有发病风险、无DNA分析条件的家族中进行分子学诊断无可行性。经脐带血进行血红蛋白A(HbA)的定量分析可做为一种重型地中海性贫血产前诊断方法。血
Severe Mediterranean anemia is a serious transfusion-dependent disease. More than 90% of the common five Indian β-Mediterranean anemias have a genetic mutation and the type of mutation is β0 / β +. However, it is not feasible to perform molecular diagnostics in families with risk of developing or without DNA analysis. Quantitative analysis of hemoglobin A (HbA) by cord blood can be used as a prenatal diagnostic method for severe Mediterranean anemia. blood