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
§ Transient sideroblastic anemia during pregnancy
Pathogenesis
- Defects in utilizing iron in heme synthesis
- Pathological iron accumulation in the mitochondria of erythroid precursors
- Clonal or non-clonal
- Clonal associated with myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN) and MDS/MPN
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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