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Version August 2025
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Mitochondrial pathways in the erythroblast affected by genetic defects of congenital sideroblastic anemias
Mitochondrial pathways in the erythroblast affected by genetic defects of congenital sideroblastic anemias
Refer to UpToDate for details of the pathophysiology and diagnostic testing.
A38 (after glycine): SLC25A38; CoA: coenzyme A; ALA: 5-aminolevulinic acid; CP'gen III: coproporphyrinogen III; PPIX: protoporphyrin IX; Fe: iron; MFRN1 (after iron [Fe]): mitoferrin 1; Fe-S: iron-sulfur; ABCB7 (after Fe-S cluster synthesis): mitochondrial transporter for cytosolic Fe-S cluster maturation; Thiamine-P-P: thiamine pyrophosphate; tRNA: transfer RNA; mt: mitochondrial; ALAS2: 5-aminolevulinate synthase; SLC25A38: mitochondrial glycine carrier protein; FECH: ferrochelatase; HSPA9: mitochondrial heat shock protein 70 homologue; HCSB: mitochondrial Fe-S cluster assembly co-chaperone; PUS1: pseudouridine synthase; YARS2: tyrosyl-tRNA synthetase; LARS2: leucyl-tRNA synthetase; IARS2: isoleucyl-tRNA synthetase; SARS2: seryl-tRNA synthetase; TRNT1: tRNA nucleotidyl transferase 1 (CCA-adding enzyme); NDUFB11: NADH:ubiquinone oxidoreductase subunit B11; MT-ATP6: mitochondrial ATP synthase 6; SLC19A2: high-affinity thiamine transporter.
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