α地中海贫血是指血红蛋白的α链合成受到部分或完全抑制的遗传性血红蛋白病,本病多见于东南亚和我国南方,有贫血、肝脾肿大、黄疸等较严重的临床症状,本病是由于α珠蛋白的基因缺失所致,α珠蛋白基因缺失数目愈多,临床症状愈严重。α地中海贫血的分子遗传学Wasi等提出α珠蛋白链是由一对等位基因控制的,其中一种称为α地中海贫血1(αthal.1)基因,完全抑制α链的合成;另一种称为α地中海贫血2(αthal.2)基因,部分抑制α链的合成,由于这两种基因和正常α基因的各种不同组合,可构成各种不同类型的α地中海贫血症:静止型地中海贫血(α~(tha 1·2) /α~A);标准型地中海贫血(α~(tha1·1/α~A);血红蛋白H(HbH)病 α thalassemia is hemoglobin α-chain synthesis is partially or completely inhibited hereditary hemoglobinopathy, the disease more common in Southeast Asia and southern China, anemia, hepatosplenomegaly, jaundice and other more serious clinical symptoms, the disease is due to Alpha globin gene deletion due to the number of alpha globin gene deletion, the more serious clinical symptoms. α-thalassemia genetics Wasi et al proposed α-globin chain is controlled by a pair of alleles, one of which is called α-thalassemia 1 (αthal.1) gene, completely inhibiting the synthesis of α-chain; the other Known as the alpha thal 2 gene, it partly inhibits the synthesis of the alpha chain and can form a variety of different types of alpha thalassemia due to various combinations of the two genes and the normal alpha gene: the quiescent Mediterranean A thalassemia, thalassemia, thalassemia, thalassemia, thalassemia, thalassemia, thalassemia, thalassemia,