Fleming Mark D
Department of Pathology, Children's Hospital, Boston, MA 02115, USA.
Semin Hematol. 2002 Oct;39(4):270-81. doi: 10.1053/shem.2002.35637.
The sideroblastic anemias are a heterogeneous group of acquired and inherited bone marrow disorders defined by the presence of pathologic iron deposits in erythroblast mitochondria. While the pathogenesis of almost all cases of acquired sideroblastic anemia is unknown, the molecular genetic basis for several of the inherited forms have now been described. Initially, mutations in ALAS2 in X-linked sideroblastic anemia (XLSA) focused attention on the heme biosynthetic pathway as a primary cause of sideroblastic anemia. However, the subsequent description of the genes involved in XLSA with ataxia, thiamine-responsive megaloblastic anemia, and Pearson marrow-pancreas syndrome have implicated other pathways, including mitochondrial oxidative phosphorylation, thiamine metabolism, and iron-sulfur cluster biosynthesis, as primary defects in sideroblastic anemias that may only secondarily impact heme metabolism.
铁粒幼细胞性贫血是一组异质性的获得性和遗传性骨髓疾病，其定义为成红细胞线粒体中存在病理性铁沉积。虽然几乎所有获得性铁粒幼细胞性贫血病例的发病机制尚不清楚，但现在已经描述了几种遗传性形式的分子遗传基础。最初，X连锁铁粒幼细胞性贫血（XLSA）中ALAS2的突变使人们将注意力集中在血红素生物合成途径上，认为这是铁粒幼细胞性贫血的主要原因。然而，随后对与XLSA相关的共济失调、硫胺素反应性巨幼细胞贫血和Pearson骨髓-胰腺综合征所涉及基因的描述表明，其他途径，包括线粒体氧化磷酸化、硫胺素代谢和铁硫簇生物合成，才是铁粒幼细胞性贫血的主要缺陷，而这可能只是继发地影响血红素代谢。
