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Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?

机译:我们是否应该筛选血样中的珠蛋白基因突变,平均红细胞体积(mCV)大于80 fL,地中海贫血患病率高?

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摘要

Aims - To investigate whether it is worthwhile, in areas where thalassaemia is common, to screen for globin gene mutations in subjects with a mean corpuscular volume (MCV) above 80 fL, especially in partners of known thalassaemia carriers. Methods - Blood samples from 95 subjects with MCV between 80 and 85 fL were screened for the presence of α globin gene mutations and the haemoglobin (Hb) E mutation. Results - Thirty four subjects harboured globin gene mutations. Of these, 31 had deletions of one α globin gene, one had Hb Constant Spring, and three had Hb E mutations. Conclusion - Based on the above figures and known prevalence rates of thalassaemia carriers, it would seem worthwhile to screen for globin gene mutations in partners of known thalassaemia carriers, regardless of MCV, to identify pregnancies at risk of Hb H disease or Hb E/β thalassaemia.
机译:目的-研究在地中海贫血常见地区是否值得筛查平均红细胞体积(MCV)高于80 fL的受试者的球蛋白基因突变,特别是在已知地中海贫血携带者的伴侣中。方法-从95名MCV在80至85 fL之间的受试者的血液样本中筛选了α珠蛋白基因突变和血红蛋白(Hb)E突变的存在。结果-34名受试者携带珠蛋白基因突变。其中31个具有一个α球蛋白基因的缺失,一个具有Hb恒定弹簧的缺失,三个具有Hb E突变。结论-根据上述数据和已知的地中海贫血携带者患病率,似乎有必要在已知地中海贫血携带者的伴侣中筛选球蛋白基因突变,而不论MCV如何,以鉴定有Hb H病或Hb E /β风险的孕妇地中海贫血。

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