一、概述遗传性溶血性贫血是先天性代谢缺陷引起的一种综合征,其主要病因为:膜缺陷、血红蛋白病、两种珠蛋白链生成缺如或减少,红细胞酶病(红细胞酶异常)或卟啉代谢异常。本文先介绍日本有关流行病学调查的结果,然后简要复习膜缺陷所致溶血性贫血、血红蛋白病和地中海贫血。最后主要部分介绍伴有遗传性溶血性贫血的红细胞酶病。这是本人24年来主要从事的工作。本文重点介绍红细胞酶病。二、日本遗传性溶血性贫血的流行病学调查此项研究是在卫生及公共福利部资助下,于1974年由我们进行的。结果表明,日本人的发病率为5.7-20.3/100万人。70%为遗传性球形细胞增多症。此外,血红蛋白病占15%,地中海贫血占3.6%,红细胞酶病占6.4%。曾认为,白种人中遗传性球形细胞增多症发生率为200～300/100万人。因此,日本人的发病率约为白种人的1/7～1/10。其他遗传性溶血性贫血如镰状细胞性贫血(一种血红蛋白病)、地中海贫血和葡萄糖6磷酸脱氢酶(G6PD)缺乏症(一种 First, an overview of hereditary hemolytic anemia is a syndrome caused by congenital metabolic defects, the main etiology is: membrane defects, hemoglobin disease, lack of two kinds of globin chain formation or reduction, erythrocyte enzyme disease (abnormal erythrocyte enzyme) Or porphyrin metabolism abnormalities. This article first introduces the results of an epidemiological survey in Japan and then briefly reviews hemolytic anemia, hemoglobinopathies and thalassemia due to membrane defects. The last part introduces the hereditary hemolytic anemia of erythrocytic enzyme disease. This is my main job 24 years ago. This article focuses on erythrocyte enzyme disease. Second, the epidemiological survey of hereditary hemolytic anemia in Japan This study was conducted by us in 1974 with the funding of the Ministry of Health and Welfare. The results show that the Japanese incidence of 5.7-20.3 / 100 million people. 70% of hereditary spherocytosis. In addition, hemoglobin disease accounted for 15%, thalassemia 3.6%, erythrocyte enzyme disease accounted for 6.4%. Once thought, the incidence of inherited polycythemia in white people was 200-300/100 million. Therefore, the incidence of Japanese is about 1/7 to 1/10 of Caucasians. Other hereditary hemolytic anemias such as sickle cell anemia (a form of hemoglobinopathy), thalassemia, and glucose 6-phosphate dehydrogenase (G6PD) deficiency