定义与概念先天性红细胞生成障碍性贫血(Congenital dyserythropoietic anemia,简称CDA)是一组以无效红细胞生成(髓内红细胞破坏)、幼红细胞多核以及继发性组织铁沉积过多为主要特征的常染色体隐性(或显性)遗传性贫血,本病国内尚无报道。 CDA无效红细胞生成的特点是:贫血,网织红细胞正常或增高,血浆铁转换增加,红细胞与示踪铁之结合降低,粪胆素与血浆间接胆红质升高,由于血红蛋白分解过度,引起内源性一氧化碳产量增多。骨髓红系增生活跃、幼红细胞破坏加速,后者常是本病红细胞生成障碍的主要因素。但粒系与巨核细胞系生成仍保持正常。红细胞寿命正常或缩短,常 Definition and Congenital Congenital dyserythropoietic anemia (CDA) is a group of autosomes characterized by ineffective erythropoiesis (intramedullary erythrocyte destruction), erythroid multicellular as well as excessive secondary iron deposition Hidden (or dominant) hereditary anemia, the disease has not been reported in China. CDA ineffective erythropoiesis is characterized by anemia, normal or elevated reticulocytes, increased plasma iron turnover, decreased binding of erythrocytes to tracer iron, elevated indirect bilirubin in fentanyl and plasma, Source of carbon monoxide production increased. Bone marrow erythroid hyperplasia, accelerated erythrocyte destruction, which is often the main obstacle to erythropoiesis of the disease. However, the generation of myeloid and megakaryocytic lines remained normal. Erythrocyte normal or shortened life, often