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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