Sideroblastic Anemia

Etiology

  • Hereditary Sideroblastic Anemia
    • X chromosome linked: ALAS2 deficiency, Hereditary sideroblastic anemia with ataxia: mitochondrial ATP binding cassette (ABCB7) mutations
    • Autosomal: Mitochondrial myopathy and sideroblastic anemia (PSU1 mutations)
    • Mitochondrial: Pearson marrow-pancreas syndrome
  • Acquired Sideroblastic Anemia
    • Primary Sideroblastic Anemia (see myelodysplastic syndromes)
      • Subunit 1 of the mitochondrial cytochrome oxidase
    • Secondary Sideroblastic Anemia
      • Chloramphenicol
      • Copper Deficiency
      • Chronic Neoplastic and Inflammatory Disease
      • Cycloserine
      • Ethanol
      • Isoniazid
      • Lead
      • Pyrazinamide
      • Zinc

Diagnosis

  • Sideroblastic anemias have large numbers of ringed sideroblasts in the marrow, ineffective erythropoiesis, increased levels of tissue iron, and varying proportions of hypochromic erythrocytes in the blood

References

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