【摘要】 遗传性溶血性贫血是以溶血和溶血性贫血为主要临床表现的遗传性疾病,是全球最常见的遗传性疾病。按发病机制可分为遗传性红细胞膜缺陷、红细胞酶病和血红蛋白病三大类,最常见的疾病为遗传性球形红细胞增多症、葡萄糖-6-磷酸脱氢酶缺乏症和地中海贫血。临床表现具有异质性,疾病早期或轻型不一定有贫血。重视外周血红细胞形态检查可以及早发现本组疾病,普及灵敏度和特异度高的筛查试验将大大提高诊断率,各医学中心建立血红蛋白膜蛋白电泳、红细胞酶直接定量测定以及血红蛋白病的基因诊断和产前诊断将提高诊断正确率。更多还原

【Abstract】 Hereditary hemolytic anemia(HHA)is a hereditary disorder with main clinical presentation of hemolysis and hemolytic anemia.It’s the most common disease of hereditary disorders in the world.According to the pathogenic mechanism,the disorders can be divided into three groups:abnormalities of the red cell membrane,red cell enzyme disorders and hemoglobinopathies.The most common HHA are hereditary spherocytosis,G6PD deficiency and the thalassemias.The clinical presentation of HHA may be heterogeneity.No anemia may occur in the early stage or mild HHA.In order to detect HHA early,we should pay more attention to the morphology of red cell in the peripheral blood film.Recommendation of screening tests with high sensitivity and specificity will be improving the diagnosis of HHA.For correct diagnosis,the medical centres should establish red cell membrane protein electropheresis,direct quantitative assay of red cell enzyme,gene diagnosis and prenatal diagnosis of hemoglobinopathy.更多还原