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- W3150751010 abstract "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 presentation will summarize the clinical features, molecular genetics, and pathophysiology of the CSAs in the context of these pathways with particular emphasis on new disease entities and how characterization these phenotypes can contribute to CSA diagnostics and therapeutics. Disclosures No relevant conflicts of interest to declare." @default.
- W3150751010 created "2021-04-13" @default.
- W3150751010 creator A5051427859 @default.
- W3150751010 date "2017-12-07" @default.
- W3150751010 modified "2023-09-27" @default.
- W3150751010 title "Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation" @default.
- W3150751010 doi "https://doi.org/10.1182/blood.v130.suppl_1.sci-41.sci-41" @default.
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