Schuppler J, Cornu P, Krey G, Gudat F, Speck B
Blut. 1975 Nov;31(5):271-82. doi: 10.1007/BF01634143.
The autopsy and electron microscopic findings in a pair of brothers with congenital dyserythropoietic anemia (CDA) are presented. In both patients autopsy revealed severe secondary hemochromatosis, including cirrhosis of the liver and fatal heart involvement. According to current ultrastructural criteria, a mixture of CDA type I (interchromatin bridges, wide euchromatin-cytoplasmic connections) and of type II (marginal cisternae, nuclear protrusions, multinuclearity, karyorrhexis) was found in erythroblasts of one patient. In the second patient electron microscopy of bone marrow stored in formalin for several years allowed the diagnosis of CDA with marginal cisternae in retrospect. These findings illustrate the usefulness of electron microscopy for the diagnosis of CDA in unsolved cases of chronic ineffective erythropoiesis, even from formalin fixed material. For subtyping CDA into type I and II, however, other than morphological parameters should be used for definition. In the clinical management splenectomy and a drastic phlebotomy programme have been found favourable.
本文报道了一对患有先天性红细胞生成异常性贫血（CDA）的兄弟的尸检及电子显微镜检查结果。两名患者的尸检均显示严重的继发性血色素沉着症，包括肝硬化和致命的心脏受累。根据当前的超微结构标准，在一名患者的成红细胞中发现了I型CDA（染色质间桥、宽常染色质-细胞质连接）和II型CDA（边缘池、核突出、多核、核溶解）的混合表现。在第二名患者中，对保存在福尔马林中数年的骨髓进行电子显微镜检查，回顾性诊断为伴有边缘池的CDA。这些发现表明，即使是来自福尔马林固定材料的慢性无效红细胞生成未解决病例，电子显微镜检查对于CDA的诊断也很有用。然而，对于将CDA分为I型和II型，除形态学参数外，还应使用其他参数进行定义。在临床管理中，脾切除术和严格的放血方案已被证明是有利的。
