The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morpho...The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morphological aberrations of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading. Iron accumulation occurs even in untransfused patients and can result in heart failure and liver cirrhosis. We have reported about a patient who presented with liver cirrhosis and intractable ascites caused by congenital dyserythropoietic anemia type II. Her clinical course was further complicated by the development of autoimmune hemolytic anemia. Splenectomy was eventually performed which achieved complete resolution of ascites, increase of hemoglobin concentration and abrogation of transfusion requirements.展开更多
Peripheral cisternae and double membranes(PCDMs)in erythroid cells are a landmark of typeⅡcongenital dyserythropoietic anemia(CDA).To gain further insights into the mechanism of dyserythropoiesis,erythroblasts and er...Peripheral cisternae and double membranes(PCDMs)in erythroid cells are a landmark of typeⅡcongenital dyserythropoietic anemia(CDA).To gain further insights into the mechanism of dyserythropoiesis,erythroblasts and erythrocytes in bone marrow were studied in 22 Chinese patients with CDAⅡby transmission electron microscopy.The study demonstrated an increase in all patients in erythroblasts with PCDMs with development from pro-erythroblast to red blood cells.PCDMs often connected with cisternae of endoplasmic reticulum(ER)and the perinuclear space,and were accompanied by karyopyknosis,karyolysis and disruption in polychromatic and orthochromatic erythroblasts.The results suggest that PCDMs are transformed from ER during erythropoiesis and participate in the dissolution and deletion of late erythroid cells in patients with CDAⅡ.展开更多
文摘The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morphological aberrations of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading. Iron accumulation occurs even in untransfused patients and can result in heart failure and liver cirrhosis. We have reported about a patient who presented with liver cirrhosis and intractable ascites caused by congenital dyserythropoietic anemia type II. Her clinical course was further complicated by the development of autoimmune hemolytic anemia. Splenectomy was eventually performed which achieved complete resolution of ascites, increase of hemoglobin concentration and abrogation of transfusion requirements.
文摘Peripheral cisternae and double membranes(PCDMs)in erythroid cells are a landmark of typeⅡcongenital dyserythropoietic anemia(CDA).To gain further insights into the mechanism of dyserythropoiesis,erythroblasts and erythrocytes in bone marrow were studied in 22 Chinese patients with CDAⅡby transmission electron microscopy.The study demonstrated an increase in all patients in erythroblasts with PCDMs with development from pro-erythroblast to red blood cells.PCDMs often connected with cisternae of endoplasmic reticulum(ER)and the perinuclear space,and were accompanied by karyopyknosis,karyolysis and disruption in polychromatic and orthochromatic erythroblasts.The results suggest that PCDMs are transformed from ER during erythropoiesis and participate in the dissolution and deletion of late erythroid cells in patients with CDAⅡ.
