Congenital dyserythropoietic anemias
Congenital dyserythropoietic anemias
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DOI：
10.1097/moh.0b013e32834521b0
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发表时间：
2011-05-01
影响因子：
3.2
通讯作者：
Delaunay, Jean
中科院分区：
文献类型：
--
作者：
Iolascon, Achille;Russo, Roberta;Delaunay, Jean
先天性促红细胞增生性贫血（CDAs）是一种罕见的遗传性疾病，其特征是红细胞生成功能低下和骨髓中红细胞形态异常。特征性形态畸变是诊断的基础，但在确定了几个致病基因之后，分子方法可以作为识别这些疾病的快速工具。本文就CDAs的诊断和分类作一综述。最近的发现长期以来，CDAs的分类是基于形态学特征的。现在，一些相关基因的发现使得重新考虑部分分类成为可能。通过2002年发现的编码codanin-1的基因CDAN1，第一个在基因上被部分解释的CDA是cda1。最近，对CDA II的基因SEC23B和迄今未命名的CDA KLF1的基因进行了戏剧性的鉴定。SEC23B编码SEC23B，后者是由内质网转运到高尔基体顺腔室的包被囊泡的一个组成部分。编码红系转录因子KLF1的KLF1的独特突变会导致主要的超微结构异常，胚胎和胎儿血红蛋白的持续存在，以及一些红细胞膜蛋白的缺失。基因型-表型关系的研究，正如已经对CDA II所做的那样，将允许更准确的预后。相关基因的鉴定为CDAs的研究开辟了新的前景。
Purpose of reviewCongenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Characteristic morphological aberrations were the cornerstone of diagnosis, but following the identification of several causative genes, the molecular approach could represent a rapid tool for the identification of these conditions. This review presents advances in diagnosis and classification of CDAs.Recent findingsThe classification of CDAs has long been based on morphological features. Now, the discovery of some of the responsible genes allows reconsideration of part of the classification. The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1. Recently, the dramatic identification of the genes responsible for CDA II, SEC23B, and for a hitherto unnamed CDA, KLF1, took place. SEC23B encodes SEC23B which is a component of the coated vesicles transiting from the endoplasmic reticulum to the cis compartment of the Golgi apparatus. A unique mutation in KLF1, which encodes the erythroid transcription factor KLF1, causes major ultrastructural abnormalities, the persistence of embryonic and fetal hemoglobins, and the absence of some red cell membrane proteins.SummaryStudies of genotype-phenotype relationship, as has already been done for CDA II, will allow a more accurate prognosis. Identification of the responsible genes has opened new vistas for research on CDAs.