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δβ-地中海贫血和遗传性持续性胎儿血红蛋白综合征(hereditary persistence of fetal hemoglobin,HPFH)是一组以出生后胎儿血红蛋白(fetal hemoglobin,HbF)持续性增高的血红蛋白病。其分子机制是由于类β-珠蛋白基因簇的缺失或突变,导致胎儿期γ-珠蛋白基因在成人期重新开放并持续表达〔1〕。δβ-地中海贫血基因缺陷类型根据发现地或人种命名,如土耳其型、德国型、日本型、西西里岛型、西班牙型等。我国报道的β-地中海贫血大片段缺失型有中国型、云南型、广州型、比利时型及
δβ-Thalassemia and Hereditary Persistence of Fetal Hemoglobin Syndrome (HPFH) is a group of hemoglobinopathies that persistently increase in their postnatal fetal hemoglobin (HbF). The molecular mechanism is due to the deletion or mutation of the β-globin gene cluster, leading to the reopening of γ-globin gene in fetal period and its continuous expression in adult [1]. δβ-thalassemia gene defect type according to the place of discovery or race name, such as the Turkish type, German type, Japanese type, Sicily type, Spanish type and so on. Our country reported a large fragment of β-thalassemia deletion type Chinese, Yunnan, Guangzhou, Belgium and