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Other marrow failure diseases

Transplant advances and outcomes

Bone marrow failure syndromes are rare diseases with abnormal or absent hematopoiesis in one or more cell lines. They include acquired or congenital aplastic anemia, Fanconi anemia and Diamond-Blackfan anemia. Most patients are diagnosed in childhood and commonly present with hematologic findings such as single-cell or pancytopenia, myelodysplastic syndromes or leukemia, particularly acute myeloid leukemia. [1]

Diamond-Blackfan and Fanconi anemia are rare heterogeneous disorders characterized by red cell aplasia. Many patients eventually develop pancytopenias from these syndromes. Allogeneic hematopoietic cell transplantation (HCT) offers the only potential cure for both disorders. [1,4] A 2016 study of long-term survival in patients transplanted for Fanconi anemia found that 10 and 15-year probabilities of survival were 90% and 79%, respectively. [5]

Recommended timing for transplant consultation

  • Diamond-Blackfan Anemia: continued transfusion dependent anemia following a course of steroid therapy, development of significant infections, MDS/AML
  • Shwachman-Diamond syndrome, Fanconi anemia, Dyskeratosis Congentia and others: development of cytopenias, transfusion dependence, or significant infections; high-risk cytopenic clones, high-risk somatic mutation patterns; MDS/AML

References

  1. Alter BP. Inherited bone marrow failure syndromes: considerations pre- and posttransplant. Blood. 2017; 130(21): 2257-2264. Access
  2. Tolar J, Sodani P, Symons H. Alternative donor transplant of benign primary hematologic disorders. Bone Marrow Transplant. 2015; 50(5): 619-627. Access
  3. Scheinberg P, Young NS. How I treat acquired aplastic anemia. Blood. 2012; 120(6): 1185-1196. Access
  4. Smith AR, Wagner JE. Current clinical management of Fanconi anemia. Expert Rev Hematol. 2012; 5(5): 513-522. Access
  5. Bonfim C, Ribeiro L, Nichele S, et al. Long-term survival, organ function, and malignancy after hematopoietic stem cell transplantation for Fanconi anemia. Biol Blood Marrow Transplant. 2016; 22(7): 1257-1263. Access
  6. NMDP and ASTCT Recommended Timing for Transplant Consultation. Download PDF
  7. National Comprehensive Cancer Network. NCCN Guidelines. 2023. Access