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本文对56名撒丁岛人β~0地中海贫血杂合子的血液学表型及其与α-珠蛋白基因的关系进行了研究。通过对限制性内切酶谱分析说明了α-珠蛋白基因与血液学表型之间的关系。遗传学研究和珠蛋白链的合成分析早已提示α和β地中海贫血双重杂合子比单纯的β地中海贫血(α-珠蛋白基因正常)的血液学表型较轻。最近用限制性内切酶谱研究证明,在缺失1个(α/αα)或2个(-α-α)
In this paper, the hematological phenotypes of 56 Sardinian heterozygotes with β ~ 0 thalassemia and their relationship with α-globin gene were studied. The relationship between alpha-globin genes and hematological phenotypes was demonstrated by restriction endonuclease profiling. Genetic studies and synthesis of globin chains have long suggested that the hematological phenotypes of α and β thalassemia heterozygotes are slightly worse than those of β-thalassemia alone (α-globin gene normal). Recent studies with restriction endonuclease studies have shown that in the absence of 1 (α / αα) or 2 (-α-α)