Main Article Content

hosein kamranzadeh fumani
Mohammad Zokaasadi
Amir Kasaeian
Kamran Alimoghaddam
Asadollah Mousavi
Babak Bahar
Mohammad Vaezi
Ardeshir Ghavamzadeh


Fanconi Anemia, hematopoietic stem cell transplantation, Graft versus Host Disease


Background & objectives: Fanconi anemia (FA) is a rare genetic disorder caused by an impaired DNA repair mechanism which leads to an increased tendency toward malignancies and progressive bone marrow failure. The only curative management available for hematologic abnormalities in FA patients is hematopoietic stem cell transplantation (HSCT). This study aimed to evaluate the role of HSCT in FA patients.

Methods: Twenty FA patients with ages of 16 or more who underwent HSCT between 2002 and 2015 enrolled in this study. All transplants were allogeneic and the stem cell source was peripheral blood and all patients had a full HLA-matched donor.

Results: Eleven patients were female and 9 male (55% and 45%). Mean age was 24.05 years. Mortality rate was 50% (n=10) and the main cause of death was GVHD. Survival analysis showed an overall 5-year survival of 53.63% and 13 year survival of 45.96 % among patients.

Conclusion: HSCT is the only curative management for bone marrow failure in FA patients and despite high rate of mortality and morbidity it seems to be an appropriate treatment with an acceptable long term survival rate for adolescent and adult group.


Download data is not yet available.

Abstract 3485
PDF Downloads 584
HTML Downloads 686


[1] Peffault de Latour R, Porcher R, Dalle JH, Aljurf M, Korthof ET, Svahn J, Willemze R,
Barrenetxea C, Mialou V, Soulier J, Ayas M, Oneto R, Bacigalupo A, Marsh JC, Peters C, Socie G, Dufour C, Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the European Group for Blood and Marrow Transplantation experience. Blood. 2013;122(26):4279-86.
[2] Alter BP. Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol. 2014;27(3-4):214-21.
[3] Chao MM, Ebell W, Bader P, Beier R, Burkhardt B, Feuchtinger T, Handgretinger R, Hanenberg H, Koehl U, Kratz C, Kremens B, Lang P, Meisel R, Mueller I, Roessig C, Sauer M, Schlegel PG, Schulz A, Strahm B, Thol F, Sykora KW. Consensus of German transplant centers on hematopoietic stem cell transplantation in Fanconi anemia. Klin Padiatr. 2015;227(3):157-65.
[4] Stepensky P, Shapira MY, Balashov D, Trakhtman P, Skorobogatova E, Rheingold L, Brooks R, Revel-Vilk S, Weintraub M, Stein J, Maschan A, Or R, Resnick IB. Bone marrow transplantation for Fanconi anemia using fludarabine-based conditioning. Biol Blood Marrow Transplant : journal of the American Society for Blood and Marrow Transplantation. 2011;17(9):1282-8.
[5] MacMillan ML, Wagner JE. Haematopoeitic cell transplantation for Fanconi anaemia - when and how? Br J Haematol. 2010;149(1):14-21.
[6] Guardiola P, Pasquini R, Dokal I, Ortega JJ, van Weel-Sipman M, Marsh JC, Ball SE, Locatelli F, Vermylen C, Skinner R, Ljungman P, Miniero R, Shaw PJ, Souillet G, Michallet M, Bekassy AN, Krivan G, Di Bartolomeo P, Heilmann C, Zanesco L, Cahn JY, Arcese W, Bacigalupo A, Gluckman E. Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation. Blood. 2000;95(2):422-9.
[7] Ayas M, Saber W, Davies SM, Harris RE, Hale GA, Socie G, LeRademacher J, Thakar M, Deeg HJ, Al-Seraihy A, Battiwalla M, Camitta BM, Olsson R, Bajwa RS, Bonfim CM, Pasquini R, Macmillan ML, George B, Copelan EA, Wirk B, Al Jefri A, Fasth AL, Guinan EC, Horn BN, Lewis VA, Slavin S, Stepensky P, Bierings M, Gale RP. Allogeneic hematopoietic cell transplantation for fanconi anemia in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome, or acute leukemia. J Clin Oncol: official journal of the American Society of Clinical Oncology. 2013;31(13):1669-76.
[8] Bitan M, Or R, Shapira MY, Aker M, Resnick IB, Ackerstein A, Samuel S, Elad S, Slavin S. Fludarabine-based reduced intensity conditioning for stem cell transplantation of Fanconi anemia patients from fully matched related and unrelated donors. Biol Blood Marrow Transplant: journal of the American Society for Blood and Marrow Transplantation. 2006;12(7):712-8.
[9] Tan PL, Wagner JE, Auerbach AD, Defor TE, Slungaard A, Macmillan ML. Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation. Pediatr Blood Cancer. 2006;46(5):630-6.
[10] de la Fuente J, Reiss S, McCloy M, Vulliamy T, Roberts IA, Rahemtulla A, Dokal I. Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors. Bone Marrow Transplant. 2003;32(7):653-6.
[11] Ayas M, Siddiqui K, Al-Jefri A, El-Solh H, Al-Ahmari A, Khairy A, Markiz S, Shahin H, Al-Musa A, Al-Seraihy A. Factors affecting the outcome of related allogeneic hematopoietic cell transplantation in patients with Fanconi Anemia. Biol Blood Marrow Transplant: journal of the American Society for Blood and Marrow Transplantation. 2014;20(10):1599-603.
[12] Baker JM, Lewis VA, Fernandez CV, Duval M, Crooks BN, Yuille K, Freedman MH, Doyle JJ, Dror Y. Allogeneic hematopoietic stem cell transplantation of patients with FA and high risk features using fludarabine without radiation. Pediatr Blood Cancer. 2009;52(5):683-5.
[13] de Medeiros CR, Bitencourt MA, Zanis-Neto J, Maluf EC, Carvalho DS, Bonfim CS, Funke VM, Setubal DC, Farah N, Pasquini R. Allogeneic hematopoietic stem cell transplantation from an alternative stem cell source in Fanconi anemia patients: analysis of 47 patients from a single institution. Braz J Med Biol Res = Revista brasileira de pesquisas medicas e biologicas / Sociedade Brasileira de Biofisica [et al]. 2006;39(10):1297-304.
[14] MacMillan ML, DeFor TE, Young JA, Dusenbery KE, Blazar BR, Slungaard A, Zierhut H, Weisdorf DJ, Wagner JE. Alternative donor hematopoietic cell transplantation for Fanconi anemia. Blood. 2015;125(24):3798-804.
[15] Guardiola P, Socie G, Li X, Ribaud P, Devergie A, Esperou H, Richard P, Traineau R, Janin A, Gluckman, E. Acute graft-versus-host disease in patients with Fanconi anemia or acquired aplastic anemia undergoing bone marrow transplantation from HLA-identical sibling donors: risk factors and influence on outcome. Blood. 2004;103(1):73-7.
[16] Masserot C, Peffault de Latour R, Rocha V, Leblanc T, Rigolet A, Pascal F, Janin A, Soulier J, Gluckman E, Socie G. Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation. Cancer. 2008;113(12):3315-22.

Similar Articles

You may also start an advanced similarity search for this article.