Weiss S, Gafter U, van der Lyn E, Dialdetti M
Scand J Haematol. 1975 Nov;15(4):261-71. doi: 10.1111/j.1600-0609.1975.tb01082.x.
A patient with clinical and haematological findings compatible with congenital dyserythropoietic anaemia (CDA) most porbably type II is described. In contradistinction to previous observations, electron microscope examination of the erythroid cells in the bone marrow showed the concomitant appearance of nuclei at different maturation stages in a single cell. In addition, a marked tendency toward multinuclearity of the megakaryocytes was found. The mature erythroblasts showed an increased uptake of 3H-thymidine less than is normally found in these cells. Thes findings suggest an impairment in RNA and DNA synthesis.
描述了一名临床和血液学检查结果符合先天性红细胞生成异常性贫血(CDA)最可能为II型的患者。与之前的观察结果不同,对骨髓中红系细胞进行电子显微镜检查发现,单个细胞中同时出现处于不同成熟阶段的细胞核。此外,还发现巨核细胞有明显的多核化倾向。成熟的成红细胞对3H-胸腺嘧啶核苷的摄取增加,但低于这些细胞中的正常水平。这些发现提示RNA和DNA合成存在障碍。