• Description: anemia caused by defective heme metabolism, which leads to iron trapping inside the mitochondria
  • Etiology
    • Inherited: X-linked sideroblastic anemia due to a δ-ALA-synthase gene defect
    • Acquired
  • Diagnostics
    • CBC: microcytic anemia
      • Serum iron studies
      • High ferritin
      • High iron
      • High transferrin saturation
      • Normal/low TIBC
    • Peripheral blood smear
      • Basophilic stippling of RBCs
    • Prussian blue staining of bone marrow: ringed sideroblastsPasted image 20231216153044.pngPasted image 20231216153055.png