Bethlenfalvay N C, Hadnagy C, Heimpel H
Br J Haematol. 1985 Jul;60(3):541-50. doi: 10.1111/j.1365-2141.1985.tb07451.x.
Two unrelated cases of congenital dyserythropoietic anaemia (CDA) are described. They show striking similarities which could not be attributed to one of the well-known types of CDA or any other congenital disease of the erythroid system. Both patients were followed for many years before and after splenectomy. There was a long-lasting, prominent post-splenectomy erythroblastosis, suggesting impairment of red cell denucleation. The type of heredity is unknown, and the enzymatic or molecular basis of the changes observed is not understood.
本文描述了两例先天性红细胞生成异常性贫血(CDA)的非相关病例。它们表现出显著的相似性,这不能归因于任何一种已知类型的CDA或红细胞系统的任何其他先天性疾病。两位患者在脾切除术前和术后都接受了多年的随访。脾切除术后出现了长期、显著的成红细胞增多症,提示红细胞去核功能受损。遗传类型未知,所观察到的变化的酶学或分子基础尚不清楚。