Fanconi Anemia

  • Harold Chen
Living reference work entry


In 1927, Fanconi (1927) described a familial form of aplastic anemia in three brothers with short stature, hypogonadism, and skin pigmentation. It is the most common inherited form of aplastic anemia, affecting 1 in 100,000 to 1 in 200,000 live births (Ahmad et al. 2002; Rosenberg et al. 2011). The carrier frequency is estimated as 1 in 300 (Erdmann 2003) in Europe and the United States. Founder mutations have been described in Ashkenazi Jews, who have carrier frequency of 1 in 89 (Tischkowitz and Hodgson 2003).


Hematopoietic Stem Cell Transplantation Aplastic Anemia Myelodysplastic Syndrome Acute Myelogenous Leukemia Fanconi Anemia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Ahmad, S. I., Hanaoka, F., & Kirk, S. H. (2002). Molecular biology of Fanconi anaemia-an old problem, a new insight. BioEssays, 24, 439–448.CrossRefPubMedGoogle Scholar
  2. Alter, B. P. (1993). Fanconi’s anemia and its variability. British Journal of Haematology, 85, 9–14.CrossRefPubMedGoogle Scholar
  3. Alter, B. P. (1996). Fanconi’s anemia and malignancies. American Journal of Hematology, 53, 99–110.CrossRefPubMedGoogle Scholar
  4. Alter, B. P. (2003). Cancer in Fanconi anemia, 1927–2001. Cancer, 97, 425–440.CrossRefPubMedGoogle Scholar
  5. Alter, B. P. (2014). Fanconi anemia and the development of leukemia. Best Practice & Research Clinical Haematology, 27, 214–221.CrossRefGoogle Scholar
  6. Alter, B. P., & Kupfer, G. (2013). Fanconi anemia. GeneReviews. Updated February 7, 2013. Available at:
  7. Alter, B. P., Caruso, J. P., Drachtman, R. A., et al. (2000). Fanconi anemia: Myelodysplasia as a predictor of outcome. Cancer Genetics and Cytogenetics, 117, 125–131.CrossRefPubMedGoogle Scholar
  8. Ameziane, N., Errami, A., & Léveillé, F. (2008). Genetic subtyping of Fanconi anemia by comprehensive mutation screening. Human Mutation, 29, 159–166.CrossRefPubMedGoogle Scholar
  9. Ameziane, N., Sie, D., Dentro, S., et al. (2012). Diagnosis of Fanconi anemia: Mutation analysis by next-generation sequencing. Anemia, 2012, 1–7.CrossRefGoogle Scholar
  10. Auerbach, A. D. (1993). Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Experimental Hematology, 21, 731–733.PubMedGoogle Scholar
  11. Auerbach, A. D., Min, Z., Ghosh, R., et al. (1986). Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia. Human Genetics, 73, 86–88.CrossRefPubMedGoogle Scholar
  12. Auerbach, A. D., Rogatko, A., & Schroeder-Kurth, T. M. (1989). International Fanconi Anemia Registry: Relation of clinical symptoms to diepoxybutane sensitivity. Blood, 73, 391–396.PubMedGoogle Scholar
  13. Bielorai, B., Hughes, M. R., Auerbach, A. D., et al. (2004). Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor. American Journal of Hematology, 77, 397–399.CrossRefPubMedGoogle Scholar
  14. Blom, E., van de Vrugt, H. J., de Vries, Y., et al. (2004). Multiple TPR motifs characterize the Fanconi anemia FANCG protein. DNA Repair (Amsterdam), 3, 77–84.CrossRefGoogle Scholar
  15. Bogliolo, M., & Surrallés, J. (2015). Fanconi anemia: A model disease for studies on human genetics and advanced therapeutics. Current Opinion in Genetics & Development, 33, 32–40.CrossRefGoogle Scholar
  16. Cervenka, J., Arthur, D., & Yasis, C. (1981). Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia. Pediatrics, 67, 119–127.PubMedGoogle Scholar
  17. Chandra, S., Levran, O., Jurickova, I., et al. (2005). A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. Molecular Therapy, 12, 976–984.CrossRefPubMedGoogle Scholar
  18. Cioc, A. M., Wagner, J. E., MacMillan, M. L., et al. (2010). Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with Fanconi anemia: Morphologic and cytogenetic characteristics. American Journal of Clinical Pathology, 133, 92–100.CrossRefPubMedGoogle Scholar
  19. Deviren, A., Yalman, N., & Hacihanefioglu, S. (2003). Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane. Annals of Hematology, 82, 223–227.PubMedGoogle Scholar
  20. Dokal, I. (2000). The genetics of Fanconi’s anaemia. Bailliere’s Best Practice and Research Clinical Haematology, 13, 407–425.CrossRefPubMedGoogle Scholar
  21. Erdmann, J. (2003). Fanconi anemia research opens new doors in understanding of cancer. Journal of the National Cancer Institute, 95, 1190–1192.CrossRefPubMedGoogle Scholar
  22. Esmer, C., Sanchez, S., Ramos, S., et al. (2004). DEB test for Fanconi anemia detection in patients with atypical phenotypes. American Journal of Medical Genetics, 124A, 35–39.CrossRefPubMedGoogle Scholar
  23. Fanconi, G. (1927). Familiäre infantile perniziosaartige Anämie (pernizioses Blutbild und Konstitution). Jahrb Kinderhilkd, 117, 257–280.Google Scholar
  24. Fanconi, G. (1967). Familial constitutional panmyelocytopathy, Fanconi’s anemia (F.A.). I. Clinical aspects. Seminars in Hematology, 4, 233–240.PubMedGoogle Scholar
  25. Giampietro, P. F., Adler-Brecher, B., Verlander, P. C., et al. (1993). The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry. Pediatrics, 91, 1116–1120.PubMedGoogle Scholar
  26. Giampietro, P. F., Verlander, P. C., Davis, J. G., et al. (1997). Diagnosis of Fanconi anemia in patients without congenital malformations: An international Fanconi Anemia Registry Study. American Journal of Medical Genetics, 68, 58–61.CrossRefPubMedGoogle Scholar
  27. Green, H., & Kupfer, G. M. (2009). Fanconi anemia. Hematology/Oncology Clinics of North America, 23, 193–214.CrossRefPubMedGoogle Scholar
  28. Grewal, S. S., Kahn, J. P., MacMillan, M. L., et al. (2004). Successful hematopoietic stem cell transplantation for Fanconi anemia from an unaffected HLA-genotype-identical sibling selected using preimplantation genetic diagnosis. Blood, 103, 1147–1151.CrossRefPubMedGoogle Scholar
  29. Knies, K., Schuster, B., Ameziane, N., et al. (2012). Genotyping of Fanconi anemia patients by whole exome sequencing: Advantages and challenges. PLoS One, 7, 1–10.CrossRefGoogle Scholar
  30. Kutler, D. I., Singh, B., Satagopan, J., et al. (2002). A 20 year perspective of the International Fanconi Anemia Registry (IFAR). Blood, 101, 1249–1256.CrossRefPubMedGoogle Scholar
  31. Lipton, J. M. (2016). Fanconi anemia. Medscape Reference. Updated February 10, 2016. Available at:
  32. Liu, J. M., Buchwald, M., Walsh, C. E., et al. (1994). Fanconi anemia and novel strategies for therapy. Blood, 84, 3995–4007.PubMedGoogle Scholar
  33. Lo Ten Foe, J. R., Kwee, M. L., Rooimans, M. A., et al. (1997). Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance. European Journal of Human Genetics, 5, 137–148.PubMedGoogle Scholar
  34. Petryk, A., Shankar, R. K., Giri, N., et al. (2015). Endocrine disorders in Fanconi anemia; recommendations for screening and treatment. Journal of Clinical Endocrinology and Metabolism, 100, 803–811.CrossRefPubMedPubMedCentralGoogle Scholar
  35. Pulsipher, M., Kupfer, G. M., Naf, D., et al. (1998). Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer. Molecular Medicine, 4, 468–479.PubMedPubMedCentralGoogle Scholar
  36. Rosenberg, P. S., Greene, M. H., & Alter, B. P. (2003). Cancer incidence in persons with Fanconi anemia. Blood, 101, 822–826.CrossRefPubMedGoogle Scholar
  37. Rosenberg, P. S., Tamary, H., & Alter, B. P. (2011). How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi anemia in the United States and Israel. American Journal of Medical Genetics Part A, 155A, 1877–1883.CrossRefPubMedGoogle Scholar
  38. Schifferli, A., & Kühne, T. (2015). Fanconi anemia; overview of the disease and the role of hematopoietic transplantation. Journal of Pediatric Hematology/Oncology, 37, 335–343.CrossRefPubMedGoogle Scholar
  39. Schneider, M., Chandler, K., Tischkowita, M., et al. (2015). Fanconi anaemia: Genetics, molecular biology, and cancer – implications for clinical management in children and adults. Clinical Genetics, 88, 13–24.CrossRefPubMedGoogle Scholar
  40. Schroeder, T. M., Tilgen, D., Kruger, J., et al. (1976). Formal genetics of Fanconi’s anemia. Human Genetics, 32, 257–288.CrossRefPubMedGoogle Scholar
  41. Seyschab, H., Friedl, R., Sun, Y., et al. (1995). Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia. Blood, 85, 2233–2237.PubMedGoogle Scholar
  42. Shimamura, A., de Oca, R. M., Svenson, J. L., et al. (2002). A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood, 100, 4649–4654.CrossRefPubMedGoogle Scholar
  43. Shipley, J., Rodeck, C. H., Garrett, C., et al. (1984). Mitomycin C-induced chromosome damage in fetal blood cultures and prenatal diagnosis of Fanconi’s anemia. Prenatal Diagnosis, 4, 217.CrossRefPubMedGoogle Scholar
  44. Tischkowitz, M. D., & Hodgson, S. V. (2003). Fanconi anaemia. Journal of Medical Genetics, 40, 1–10.CrossRefPubMedPubMedCentralGoogle Scholar
  45. Tonnies, H., Huber, S., Kuhl, J. S., et al. (2003). Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: Gains of the chromosomal segment 3q26q29 as an adverse risk factor. Blood, 101, 3872–3874.CrossRefPubMedGoogle Scholar
  46. Verlinsky, Y., Rechitsky, S., Schoolcraft, W., et al. (2001). Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA, 285, 3130–3133.CrossRefPubMedGoogle Scholar
  47. Wu, X.-H. (2013). The concept and practice of Fanconi Anemia: From the clinical bedside to the laboratory bench. Translational Pediatrics, 2, 112–119.PubMedPubMedCentralGoogle Scholar
  48. Zierhut, H. A., Tryon, R., & Sanborn, E. M. (2014). Genetic counseling for Fanconi anemia: Crosslinking disciplines. Journal of Genetic Counseling, 23, 910–921.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

Personalised recommendations