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. Author manuscript; available in PMC: 2018 Mar 1.
Published in final edited form as: Am J Hematol. 2017 Mar;92(3):297–310. doi: 10.1002/ajh.24637

Table 1.

Differential diagnosis of bone marrow ring sideroblasts

Clonal – Myeloid Neoplasms Non Clonal Causes
1. Myelodysplastic syndrome (MDS)
  1. MDS with ring sideroblasts and single lineage dysplasia (MDS-RS SLD)

  2. MDS with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD)

  3. MDS with excess blasts and ring sideroblasts

  4. MDS-U with ring sideroblasts

1. Hereditary sideroblastic anemia
  1. X- linked sideroblastic anemia- ALAS2 mutations

  2. SLC25A38 related sideroblastic anemia

  3. Glutaredoxin 5 (GLRX5) related sideroblastic anemia

  4. Congenital sideroblastic anemia without identified molecular defects

  5. Sideroblastic anemia as a component of genetic syndromes

    1. X-linked sideroblastic anemia with ataxia- ABCB7 mutations

    2. Kearns Sayre syndrome

    3. Myopathy, lactic acidosis, and sideroblastic anemia

    4. Sideroblastic anemia, B cell immunodeficiency, periodic fevers, and developmental delay

    5. Pearson marrow-pancreas syndrome

    6. Thiamine-responsive megaloblastic anemia syndrome

    7. Congenital sideroblastic anemia due to NDUFB11 mutations.

2. Myeloproliferative neoplasms (MPN)
  1. Essential Thrombocythemia with ring sideroblasts

  2. Primary myelofibrosis with ring sideroblasts

2. Alcoholism
3. MDS/MPN overlap syndromes
  1. MDS/MPN with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T)

  2. Chronic myelomonocytic anemia with ring sideroblasts

  3. Unclassified MDS/MPN with ring sideroblasts

4. Drug induced sideroblastic anemia
  1. INH

  2. Chloramphenicol

  3. Linezolid

  4. Penicillamine

5. Copper deficiency
6. Lead poisoning
7. Zinc toxicity