即将揭开I型和II型先天性红细胞生成异常性贫血的秘密。
Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II.
作者信息
Iolascon Achille, Delaunay Jean
出版信息
Haematologica. 2009 May;94(5):599-602. doi: 10.3324/haematol.2009.005785.
Abstract
The congenital dyserythropoietic anemias are rare recessive disorders characterized by erythroblast multinuclearity, ineffective erythropoiesis, anemia and iron overload. In this perspective article, Drs. Iolascon and Delaunay examine genetic and clinical aspects of these inherited disorders.
摘要
先天性红细胞生成异常性贫血是罕见的隐性疾病，其特征为成红细胞多核、无效红细胞生成、贫血和铁过载。在这篇观点文章中，约拉斯孔博士和德洛奈博士探讨了这些遗传性疾病的遗传学和临床方面。
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本文引用的文献
1
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2
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.
Blood. 2008 Dec 15;112(13):5241-4. doi: 10.1182/blood-2008-06-165738. Epub 2008 Sep 29.
3
Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).
Eur J Haematol. 2008 Mar;80(3):271-4. doi: 10.1111/j.1600-0609.2007.01004.x. Epub 2007 Dec 7.
4
Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene.
Haematologica. 2007 Mar;92(3):427-8. doi: 10.3324/haematol.10803.
5
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I.
Blood. 2006 Jun 15;107(12):4968-9. doi: 10.1182/blood-2006-01-0081.
6
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.
Blood. 2006 Jan 1;107(1):334-40. doi: 10.1182/blood-2005-01-0421. Epub 2005 Sep 1.
7
Clinical and molecular variability in congenital dyserythropoietic anaemia type I.
Br J Haematol. 2005 Aug;130(4):628-34. doi: 10.1111/j.1365-2141.2005.05642.x.
8
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9
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