Chrobák L, Spacek J
Oddĕlení klinické hematologie LF UK a FN, Hradec Králové.
Vnitr Lek. 1997 Oct;43(10):635-8.
Congenital dyserythropoietic anemia type II (CDA-type II) (HEMPAS) was reported in three siblings. CDA-type II was associated with marked hepatosplenomegaly and siderosis of both organs. All three sibling developed cholelithiasis with choledocholithiasis and obstructive jaundice in two of them. Anemia showing hemolytic component with sequestration of erythrocytes in the spleen was corrected after splenectomy without the need of blood transfusions during the follow up period of 20, 11 and 11 years. Ultrastructural investigation of the erythrocytes after splenectomy revealed increased number of erythrocytes showing the double membrane phenomenon.
三名兄弟姐妹被诊断患有II型先天性红细胞生成异常性贫血(CDA-II型)(遗传性红细胞多核症)。CDA-II型与显著的肝脾肿大以及这两个器官的铁质沉着有关。所有三名兄弟姐妹均患上了胆结石,其中两人还伴有胆总管结石和梗阻性黄疸。表现为溶血成分且红细胞在脾脏中滞留的贫血,在脾切除术后得到纠正,在20年、11年和11年的随访期内无需输血。脾切除术后对红细胞进行的超微结构研究显示,出现双膜现象的红细胞数量增加。