Department of Pathology, Children's Hospital Boston, Boston, MA 02115, USA.
Hematology Am Soc Hematol Educ Program. 2011;2011:525-31. doi: 10.1182/asheducation-2011.1.525.
The congenital sideroblastic anemias (CSAs) are an uncommon, diverse class of inherited hematopoietic disorders characterized by pathological deposition of iron in the mitochondria of erythroid precursors. In recent years, the genetic causes of several clinically distinctive forms of CSA have been elucidated, which has revealed common themes in their pathogenesis. In particular, most, if not all, can be attributed to disordered mitochondrial heme synthesis, iron-sulfur cluster biogenesis, or pathways related to mitochondrial protein synthesis. This review summarizes the clinical features, molecular genetics, and pathophysiology of each of the CSAs in the context of these pathways.
先天性铁粒幼细胞性贫血（CSAs）是一组罕见的、多样化的遗传性造血系统疾病，其特征是红系前体细胞中线粒体中铁的病理性沉积。近年来，几种具有临床特征的 CSA 的遗传原因已被阐明，这揭示了它们发病机制中的共同主题。特别是，大多数（如果不是全部）可以归因于线粒体血红素合成、铁硫簇生物发生或与线粒体蛋白合成相关的途径紊乱。本综述根据这些途径总结了每种 CSA 的临床特征、分子遗传学和病理生理学。
