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α地中海贫血是一组常染色体隐性遗传病,由α球蛋白链合成减少或缺失致病。好发于地中海、东南亚、非洲和中东等国家,在我国长江以南地区发病率最高,是全球影响最广泛的单基因遗传病之一。缺失1、2、3、4个α地贫基因可呈现不同程度的地中海贫血临床表型。地中海贫血患者有不同程度的贫血,因此,临床上可先进行血清学筛查红细胞平均体积(MCV)、红细胞平均血红蛋白(MCH)及血红蛋白(Hb)。缺失型和非缺失型的α地贫基因诊断技术日新月异,本文就α地中海贫血的流行病学、分子机制、血液学筛查及其基因诊断技术进展进行了综述。
Alpha thalassemia is a group of autosomal recessive inherited diseases that are caused by a decrease or loss of alpha globin chain synthesis. Occurred in the Mediterranean, Southeast Asia, Africa and the Middle East and other countries, the highest incidence in the south of the Yangtze River in China, is the world’s most widely affected single gene disease. The lack of 1, 2, 3, 4 α thalassemia genes may present with varying degrees of clinical phenotype of thalassemia. Thalassemia patients have different degrees of anemia, therefore, clinically serological screening of the average volume of red blood cells (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin (Hb). The diagnostic techniques of deletional and non-deletional α-thalassemia genes are rapidly changing. The epidemiology, molecular mechanisms, hematological screening and genetic diagnosis of α-thalassemia are summarized in this paper.