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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 (white text in green shape): SLC25A38; CoA: coenzyme A; ALA: 5-aminolevulinic acid; CP'gen III: coproporphyrinogen III; PPIX: protoporphyrin IX; Fe: iron; MFRN1 (white text in blue shape): mitoferrin 1; Fe-S: iron-sulfur; ABCB7 (white text in purple shape): 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; 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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