Delaunay J, Iolascon A
INSERM U 473, Hôpital de Bicêtre, Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, France.
Baillieres Best Pract Res Clin Haematol. 1999 Dec;12(4):691-705. doi: 10.1053/beha.1999.0048.
Congenital dyserythropoietic anaemias (CDA) are a category of rare genetic diseases that affect erythropoiesis. Dyserythropoiesis is associated with abnormal erythroblasts and leads to altered red cells, the amount of which is insufficient. There are three main, well-defined CDAs, CDA I, II and III. Their characterization is based on a careful examination of the bone marrow under light and electron microscopes. In addition, a number of rare or unique forms of dyserythropoiesis have been reported. At least with respect to CDA I to III, the clinical evaluation is reaching an ever increasing refinement: age of discovery, determinants of iron overload and/or biliary complications. Over the past few years, a more promising breakthrough has been the localization of the genes responsible for CDA I, II and III, that is, 15q15.1-q15.3, 20q11.2 and 15q21-q25, respectively. Epidemiological studies have now become possible. The identification of the genes is pending.
先天性红细胞生成异常性贫血（CDA）是一类影响红细胞生成的罕见遗传病。红细胞生成异常与异常成红细胞有关，并导致红细胞改变，其数量不足。有三种主要的、已明确的CDA，即CDA I、II和III。它们的特征是基于在光学显微镜和电子显微镜下对骨髓进行仔细检查。此外，还报告了一些罕见或独特的红细胞生成异常形式。至少就CDA I至III而言，临床评估正日益精细化：发现年龄、铁过载和/或胆汁并发症的决定因素。在过去几年中，一个更有前景的突破是确定了分别导致CDA I、II和III的基因的定位，即分别位于15q15.1 - q15.3、20q11.2和15q21 - q25。流行病学研究现在已经成为可能。基因的鉴定工作仍在进行中。
