Congenital sideroblastic anemia: Unravelling molecular pathogenesis and advancing precision therapeutics.

Abstract excerpt

Congenital sideroblastic anemia (CSA) is a rare and heterogeneous disorder characterized by the presence of ring sideroblasts within the bone marrow. The underlying pathogenesis of CSA is predominantly attributed to defects in three major pathways: heme biosynthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis. The advent of next-generation sequencing technologies has facilitated the...

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