Fujiwara Tohru
Department of Laboratory Medicine and Infectious Diseases, Iwate Medical University School of Medicine.
Rinsho Ketsueki. 2025;66(7):557-564. doi: 10.11406/rinketsu.66.557.
Sideroblastic anemias (SAs) represent a diverse group of congenital and acquired disorders, characterized by anemia and the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia (CSA) arises from genetic mutations that disrupt heme and iron metabolism within mitochondria. The most common form of CSA is X-linked sideroblastic anemia (XLSA), caused by mutations in the erythroid-specific aminolevulinate synthase 2 (ALAS2) gene, a key enzyme in the heme biosynthesis pathway in erythroid cells. On the other hand, the most common form of acquired SA is myelodysplastic syndrome with ring sideroblasts (MDS-RS). The review explores the current understanding and emerging perspectives on the pathophysiology of SAs, with a particular focus on XLSA and MDS-RS.
铁粒幼细胞贫血（SAs）是一组多样的先天性和后天性疾病，其特征为贫血以及骨髓中出现环形铁粒幼细胞。先天性铁粒幼细胞贫血（CSA）源于破坏线粒体血红素和铁代谢的基因突变。CSA最常见的形式是X连锁铁粒幼细胞贫血（XLSA），由红系特异性δ-氨基-γ-酮戊酸合成酶2（ALAS2）基因突变引起，该酶是红系细胞血红素生物合成途径中的关键酶。另一方面，后天性SA最常见的形式是伴有环形铁粒幼细胞的骨髓增生异常综合征（MDS-RS）。本综述探讨了目前对SAs病理生理学的认识和新观点，尤其关注XLSA和MDS-RS。
