Diarnond-blackfan anemia: erythropoiesis lost in translation

被引：64

作者：

Flygare, Johan ^{[1
]}

Karlsson, Stefan ^{[1
]}

机构：

[1] Lund Stem Cell Ctr, Dept Mol Med & Gene Therapy, Lund, Sweden

来源：

BLOOD | 2007年 / 109卷 / 08期

关键词：

D O I：

10.1182/blood-2006-09-001222

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Linkage analysis suggests that at least 4 genes are associated with DBA of which 2 have been identified so far. The known DBA genes encode the ribosomal proteins S19 and S24 accounting for 25% and 2% of the patients, respectively. Herein, we review possible links between ribosomal proteins and erythropoiesis that might explain DBA pathogenesis. Recent studies and emerging findings suggest that a malfunctioning translational machinery may be a cause of anemia in patients with DBA.

引用

页码：3152 / 3160

页数：9

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