Furuyama Kazumichi, Sassa Shigeru
Tohoku University School of Medicine, Sendai, Japan.
Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):5-10.
Hereditary sideroblastic anemia (HSA) is a heterogeneous group of inherited anemic disorders which is characterized by the presence of ringed sideroblasts in the bone marrow, microcytic hypochromic anemia and typically its X-linked inheritance in patients. It has been shown that a deficiency of the erythroid-specific delta-aminolevulinate synthase (ALAS-E) activity is responsible for pyridoxine-responsive HSA in many patients, however, the pathogenesis of other types of HSA remains still unknown. In this article, recent evidence suggesting multiple causes for HSA is summarized and discussed.
遗传性铁粒幼细胞贫血(HSA)是一组遗传性贫血疾病,其特征是骨髓中存在环形铁粒幼细胞、小细胞低色素性贫血,且在患者中通常为X连锁遗传。研究表明,许多患者中红细胞特异性δ-氨基乙酰丙酸合酶(ALAS-E)活性缺乏是导致对吡哆醇有反应的HSA的原因,然而,其他类型HSA的发病机制仍然未知。在本文中,总结并讨论了提示HSA存在多种病因的最新证据。