Fanconi anemia historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shyam Patel [2]


The discovery of Fanconi anemia is largely the work of the Swiss pediatrician Guido Fanconi who observed various findings of the disease to be different than pernicious anemia. Over the coming decades, multiple advances in diagnostics have been made by various groups. Bone marrow transplant was optimized for Fanconi anemia in the 1980s. Most recently, in the 2010s, various new genomic alterations have been associated with Fanconi anemia.

Historical Perspective

  • In 1927, Guido Fanconi, a Swiss pediatrician, noticed that three male children from a family had pancytopenia and birth defects. These children were between the ages of 5 and 7.[1] He published his observations of his findings from this family.[2] This was the first clinical report of Fanconi anemia.[3] Guido Fanconi noted that the various findings of Fanconi anemia were different than pernicious anemia. He reported that the major criteria for Fanconi anemia were small stature, pancytopenia, hyperpigmentation, skeletal abnormalities, familiar occurrence, and urogenital abnormalities.[1]
  • In 1931, Erwin Uehlinger, a German Pathologist, published article showing that findings of Guido Fanconi are different from pernicious anemia this type of constitutional anaemia was often associated with pancytopenia and that congenital malformations.[4]
  • In 1931, Otto Naegeli, a Swiss hematologist, introduced the name Fanconi's Anaemia[5]
  • In 1937, Guido Fanconi described the renal Fanconi syndrome based on observation of de Toni and Debre, characterized by growth retardation, aminoaciduria, glycosuria and hypophosphataemic rickets. [6]
  • In 1967, Guido Fanconi described Fanconi anemia findings as separate entity than pernicious anemia.[7]
  • In 1975, S.A. Latt and colleagues showed that chromosome breaks and rearrangements in Fanconi anemia may be due to defective DNA repair.[3]
  • In 1980, Gluckman and colleagues reported on the adverse outcomes of a handful of patients with Fanconi anemia undergoing bone marrow transplantation (allogeneic transplant from an HLA-matched sibling donor with standard dose cyclophosphamide). This regimen had been used successfully in other bone marrow failure conditions such as aplastic anemia.[8] He therefore proposed to lower the dose of cyclophosphamide by 10-fold and add radiation to the conditioning regimen, which resulted in improved survival.
  • In 1982, Rockefeller University created the International Fanconi Anemia Registry (IFAR), which comprised a database base of clinical and genetic features of approximately 1300 patients with Fanconi anemia.[8]
  • In 1985, the standard conditioning regimen that was used for patients with Fanconi anemia was low-dose cyclophosphamide and low-dose irradiation.[8]
  • In 1990, it was noted that the main reason for failure of unrelated donor allo-transplant for Fanconi anemia was graft failure.
  • In 1992, the FANCC gene was first cloned.[3]
  • In 2013, it was found that Fanconi anemia genes were altered in 40% of cancers based on The Cancer Genome Atlas (TCGA) data.


  1. 1.0 1.1 Auerbach AD (2009). "Fanconi anemia and its diagnosis". Mutat Res. 668 (1–2): 4–10. doi:10.1016/j.mrfmmm.2009.01.013. PMC 2742943. PMID 19622403.
  2. Niraj J, Färkkilä A, D'Andrea AD (2019). "The Fanconi Anemia Pathway in Cancer". Annu Rev Cancer Biol. 3: 457–478. doi:10.1146/annurev-cancerbio-030617-050422. PMC 6417835. PMID 30882047.
  3. 3.0 3.1 3.2 Bagby G (2018). "Recent advances in understanding hematopoiesis in Fanconi Anemia". F1000Res. 7: 105. doi:10.12688/f1000research.13213.1. PMC 5785713. PMID 29399332.
  4. Adler CP (1981). "[In Memoriam: Erwin Uehlinger (8. August 1899 - 18. April 1980)]". Pathol Res Pract. 171 (3–4): 281–4. doi:10.1016/S0344-0338(81)80100-8. PMID 7024952.
  5. Scheidegger D (2008). "Otto Naegeli Prize awarded to Pierre-Alain Clavien". Swiss Med Wkly. 138 (25–26): 359–60. doi:2008/25/smw-12354 Check |doi= value (help). PMID 18587688.
  6. Fanconi A (2015). "Guido Fanconi, MD, 1892 - 1979 Swiss Pediatrician Life and Performance". Pediatr Endocrinol Rev. 12 (4): 343–6. PMID 26182478.
  7. Akkari Y, Olson S (2004). "Fanconi Anemia: A Decade of Discoveries". J Assoc Genet Technol. 30 (2): 48–53. PMID 15345865.
  8. 8.0 8.1 8.2 Ebens CL, MacMillan ML, Wagner JE (2017). "Hematopoietic cell transplantation in Fanconi anemia: current evidence, challenges and recommendations". Expert Rev Hematol. 10 (1): 81–97. doi:10.1080/17474086.2016.1268048. PMC 6089510. PMID 27929686.

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