Wickramasinghe S N
Department of Haematology, Imperial College School of Medicine, London, UK.
Blood Rev. 1998 Sep;12(3):178-200. doi: 10.1016/s0268-960x(98)90016-9.
Three types of congenital dyserythropoietic anaemia (CDA) were originally identified on the basis of the pattern of dysplastic changes in the erythroblasts and the results of the acidified serum lysis test (Ham test). These were designated CDA types I, II and III. Several other types have been described subsequently and new forms continue to be reported. Some patients with CDA develop iron overload even without repeated blood transfusion and may present with the complications of severe iron overload. Dysmorphic features are seen in some cases, especially of CDA type I. In CDA type II, incomplete processing of N-linked oligosaccharides leads to a marked reduction of polylactosamines associated with band 3 of the red cell membrane. A few cases of CDA type III develop lymphoid neoplasms. Some of the Swedish cases of CDA type III have developed a retinal abnormality characterized by angioid streaks and macular degeneration. The chromosomal localizations of the disease gene in CDA types I and II and in the Swedish family with CDA type III are now known, but the identities of the mutant genes are still unknown. Cases of CDA type I have shown a partial haematological response to interferon-alpha, however the biochemical basis of this response is unclear. An important step in the diagnosis of sporadic cases of CDA is the exclusion of known causes of acquired dyserythropoiesis.
三种先天性红细胞生成异常性贫血（CDA）最初是根据成红细胞发育异常变化模式及酸化血清溶血试验（Ham试验）结果来确定的。这些被命名为CDA Ⅰ型、Ⅱ型和Ⅲ型。随后又描述了其他几种类型，并且仍不断有新的类型被报道。一些CDA患者即使没有反复输血也会出现铁过载，并可能出现严重铁过载的并发症。在某些情况下，尤其是CDA Ⅰ型患者中可出现畸形特征。在CDA Ⅱ型中，N-连接寡糖的不完全加工导致与红细胞膜带3相关的聚乳糖胺显著减少。少数CDA Ⅲ型患者会发生淋巴样肿瘤。一些瑞典的CDA Ⅲ型病例出现了以血管样条纹和黄斑变性为特征的视网膜异常。目前已知CDA Ⅰ型和Ⅱ型以及瑞典CDA Ⅲ型家系中疾病基因的染色体定位，但突变基因的具体身份仍不清楚。CDA Ⅰ型病例对α干扰素显示出部分血液学反应，然而这种反应的生化基础尚不清楚。诊断散发性CDA病例的一个重要步骤是排除已知的获得性红细胞生成异常的原因。
