World Journal of Anemia

Register      Login

VOLUME 2 , ISSUE 2 ( April-June, 2018 ) > List of Articles


Fanconi Anemia

Richa Saxena, Mampi Debnath, Sudha Chamoli

Keywords : Acute myeloid leukemia, Fanconi anemia, Diepoxybutane, Human papillomavirus, Hematopoietic stem cell transplantation, Mitomycin C, Myelodysplastic syndrome

Citation Information : Saxena R, Debnath M, Chamoli S. Fanconi Anemia. World J Anemia 2018; 2 (2):55-60.

DOI: 10.5005/jp-journals-10065-0031

License: CC BY-NC 4.0

Published Online: 01-09-2018

Copyright Statement:  Copyright © 2018; The Author(s).


Fanconi anemia (FA) is an infrequently occurring autosomal recessive disorder that is genetically and phenotypically heterogeneous. The main features include myriad of congenital malformations, progressive pancytopenia, and predisposition to both hematologic malignancies as well as solid tumors. Here, in this article, topics such as the association of FA with other syndromes, FA-associated genes and cancer susceptibility, researches in FA, gynecological concerns, management, and diagnostic strategies have been discussed elaborately.

PDF Share
  1. D'Andrea AD, Grompe M. The Fanconianaemia/BRCA pathway. Nat Rev Cancer 2003;3:23-34.
  2. Young NS, Alter BP. Aplastic Anemia: Acquired and Inherited. Philadelphia PA: WB Saunders; 1994. pp. 100-132.
  3. Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Look AT, et al. (Eds). Nathan and Oski's Hematology of Infancy and Childhood, 6th edition. Philadelphia, PA: WB Saunders; 2003:280-365.
  4. Saxon B. Nathan and Oski's Hematology of infancy and children. J Paediatr Child Health 2004;40:244.
  5. Butturini A, Gale RP, Verlander PC, et al. Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study. Blood 1994;84:1650-1655.
  6. Wajnrajch MP, Gertner JM, Huma Z, Popovic J, Lin K, Verlander PC, et al. Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry. Pediatrics-English Edition 2001 Apr 1;107(4):744-754.
  7. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 2010;24:101-122.
  8. Taylor AM. Chromosome instability syndromes. Best Pract Res Clin Haematol 2001;14:631-644.
  9. Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res 2009;668:4-10.
  10. Dokal I. Fanconi's anaemia and related bone marrow failure syndromes. Br Med Bull 2006;77-78:37-53.
  11. de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res. 2009;668:11-19.
  12. Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, et al. Mutation of the RAD51C gene in a Fanconi anemia–like disorder. Nature Genetics 2010 May;42(5):406-409.
  13. Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A. Mutations of the SLX4 gene in Fanconi anemia. Nature Genetics 2011 Feb;43(2):142-146.
  14. Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillón J, Ramírez MJ, Pujol R, Casado JA. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. The American Journal of Human Genetics 2013 May 2;92(5):800-806.
  15. Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics 1996 Nov;14(3):320-323.
  16. The Rockefeller University. Fanconi Anemia Mutation Database.
  17. [online] Available from http://www2.rockefeller. edu/fanconi/ [Last accessed, March 2019].
  18. Nakanishi K, Taniguchi T, Ranganathan V, New HV, Moreau LA, Stotsky M, et al. Interaction of FANCD2 and NBS1 in the DNA damage response. Nature Cell Biology 2002 Dec;4(12):913-920.
  19. Quentin S, Cuccuini W, Ceccaldi R, Nibourel O, Pondarre C, Pagès MP, et al. Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions. Blood 2011 Apr 14;117(15):e161-170.
  20. Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 2008;93:511-517.
  21. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, de Die- Smulders C, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002 Jul 26;297(5581):606-609.
  22. Zhang F, Ma J, Wu J, Ye L, Cai H, Xia B, et al. PALB2 links BRCA1 and BRCA2 in the DNA-damage response. Current Biology 2009 Mar 24;19(6):524-529.
  23. UAB. New gene causing Fanconi anemia identified. [online] Available from news-detail/new-gene-causing-fanconi-anemia-identified-- 1345668003610.html?noticiaid=1345733384352/ [Last Accessed March, 2019].
  24. Cincinnati Children's. Best Children's Hospitals. 2018. [online] Available from [Last Accessed March, 2019].
  25. Yamashita T, Wu N, Kupfer G, Corless C, Joenje H, Grompe M, et al. Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 1996 May 15;87(10):4424-4432.
  26. Cervenka J, Arthur D, Yasis C. Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia. Pediatrics 1981 Jan 1;67(1):119-127.
  27. Chandra S, Levran O, Jurickova I, Maas C, Kapur R, Schindler D, et al. A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. Molecular Therapy 2005 Nov 1;12(5):976-984.
  28. Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Oski SH, Ginsburg D, Look T. Hematology of Infancy and Childhood, 6th edition. Philadelphia: Harcourt Health Sciences; 2003. pp. 280-365.
  29. Taniguchi T, D'Andrea AD. The molecular pathogenesis of Fanconi anemia: Recent progress. Blood 2006;107:4223-4233.
  30. Rosenberg PS, Huang Y, Alter BP. Individualized risk of first adverse events in patients with Fanconi anemia. Blood 2004;104:350-355.
  31. Tercanli S, Miny P, Siebert MS, Hösli I, Surbek DV, Holzgreve W. Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound. Ultrasound in Obstetrics and Gynecology 2001 Feb 1;17(2):160-162.
  32. Cohen-Haguenauer O, Péault B, Bauche C, Daniel MT, Casal I, Levy V, et al. In vivo repopulation ability of genetically corrected bone marrow cells from Fanconi anemia patients. Proceedings of the National Academy of Sciences 2006 Feb 14;103(7):2340-2345.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.