Sideroblastic anemia

Sideroblastic anemia

Updated: 07/13/2024

© Jun Wang, MD, PhD

 

General features

  • Defects in heme synthesis
  • Inherited and acquired microcytic anemia
  • Congenital: Various
  • Acquired

o   Clonal/neoplastic

§  Myelodysplastic syndrome (MDS) with ring sideroblasts, single or multilineage

§  MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)

o   Metabolic/reversible

§  Copper deficiency (zinc toxicity)

§  Drugs (eg, isoniazid, chloramphenicol, linezolid)

§  Excess alcohol use

§  Hypothermia

§  Lead poisoning

§  Transient sideroblastic anemia during pregnancy

Pathogenesis

Laboratory findings

  • Reduced: Hb, MVC, MCHC
  • Elevated: Serum iron, serum ferritin, transferrin saturation
  • TIBC might be normal
  • Marrow findings

o   Ring sideroblasts: iron deposit forming a ring around the nucleus by iron stain

Diagnosis

  • > 15% of ring sideroblasts in bone marrow

Management

  • Removal of toxic agents
  • Transfusion
  • Marrow or liver transplantation, etc

 

 

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