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Inherited and Genetic Disorders

Hematopoietic SCT for the Black African and non-Black African variants of sickle cell anemia

Bone Marrow Transplantation volume 49, pages 1376–1381 (2014)Cite this article

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Abstract

Sickle cell anemia (SCA) remains associated with high risks of morbidity and early death. Allogeneic hematopoietic SCT (HSCT) is the only curative treatment for SCA. We report our experience with transplantation in a group of patients with the non-Black African variant and the Black African variant of SCA. This study included 40 consecutive SCA patients (13 patients with the non-Black African variant and 27 with the Black African variant) who underwent BM transplantation from HLA-identical sibling donors between June 2004 and May 2013, following a myeloablative-conditioning regimen. All patients obtained sustained engraftment. One patient (non-Black African variant) became a stable mixed chimera with 25% donor cells more than 6 years after transplantation. The probabilities of survival, SCA-free survival and TRM at 5 years after transplant were 91%, 91% and 9%, respectively. All surviving patients remained free of any SCA-related events after transplantation. Our results confirm that it is possible to offer a greater than 90% chance of cure to children with SCA. HSCT should be considered the standard of care for who have an HLA-identical donor, before complications result from the sickling of RBC.

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References

  1. Thomas ED Marrow transplantation for thalassemia. Lancet 1982; 2: 227–229.

    Article  CAS  PubMed  Google Scholar 

  2. Lucarelli G Bone marrow transplantation in thalassemia. J Exp Clin Cancer Res 1983; 3: 313–315.

    Google Scholar 

  3. Lucarelli G, Gaziev J . Advances in the allogeneic transplantation for thalassemia. Blood Rev 2008; 22: 53–63.

    Article  PubMed  Google Scholar 

  4. Sodani P, Gaziev J, Polchi P, Erer B, Giardini C, Angelucci E et al. New approach for bone marrow transplantation in patients with class 3 thalassemia aged younger than 17 years. Blood 2004; 104: 1201–1203.

    Article  CAS  PubMed  Google Scholar 

  5. Roseff SD Sickle cell disease: a review. Immunohematology 2009; 25: 67–74.

    CAS  PubMed  Google Scholar 

  6. Nagel RL, Fabry ME, Pagnier J, Zohoun I, Wajcman H, Baudin V et al. Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. New Engl J Med 1984; 312: 880–884.

    Article  Google Scholar 

  7. Nagel RL, Steinberg MH . Genetics of the βs gene: origins, epidemiology, and epistasis. In: Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Steinberg MH, Forget BG, Higgs DR, Nagel RL (eds). Cambridge University Press: Cambridge, 2001, pp 711–755.

    Google Scholar 

  8. Steinberg MH, Sebastiani P Genetic modifiers of sickle cell disease. Am J Hematol 2012; 87: 795–803.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Lucarelli G, Gaziev J, Isgrò A, Sodani P, Paciaroni K, Alfieri C et al. Allogeneic cellular gene therapy in hemoglobinopathies: evaluation of hematopoietic stem cell transplantation in Sickle Cell Anemia. Bone Marrow Transplant 2012; 47: 227–230.

    Article  CAS  PubMed  Google Scholar 

  10. Amato A, Cappabianca MP, Colosimo A, Perri M, Grisanti P, Zaghis I et al. Current genetic epidemiology of beta-thalassemias and structural hemoglobin variants in the Lazio Region (Central Italy) following recent migration movements. Adv Hematol 2010; 2010: 317542.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Gaziev J, Nguyen L, Puozzo C, Mozzi AF, Casella M, Perrone Donnorso M et al. Novel pharmacokinetic behavior of intravenous busulfan in children with thalassemia undergoing hematopoietic stem cell transplantation: a prospective evaluation of pharmacokinetic and pharmacodynamic profile with therapeutic drug monitoring. Blood 2010; 115: 4597–4604.

    Article  CAS  PubMed  Google Scholar 

  12. Bullard WG, Romanoff ME, Woodward DG Risk factors associated with sickle cell trait. AANA J 1989; 57: 101.

    CAS  PubMed  Google Scholar 

  13. Kaplan EL, Meier P Non parametric estimation from incomplete observations. J Am Stat Assoc 1958; 53: 457–481.

    Article  Google Scholar 

  14. Giardini C Bone marrow transplantation in sickle cell disorders in Pesaro. Bone Marrow Transplant 1997; 19: 106–109.

    Google Scholar 

  15. Walters MC, Patience M, Leisenring W, Eckman JR, Scott JP, Mentzer WC et al. Bone marrow transplantation for sickle cell disease. New Engl J Med 1996; 335: 369–376.

    Article  CAS  PubMed  Google Scholar 

  16. Vermylen C, Cornu G, Ferster A, Brichard B, Ninane J, Ferrant A et al. Haematopoietic stem cell transplantation for sickle cell anaemia: the first 50 patients transplanted in Belgium. Bone Marrow Transplant 1998; 22: 1–6.

    Article  CAS  PubMed  Google Scholar 

  17. Bernaudin F, Socie G, Kuentz M, Chevret S, Duval M, Bertrand Y et al. Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease. Blood 2007; 110: 2749–2756.

    Article  CAS  PubMed  Google Scholar 

  18. Majumdar S, Robertson Z, Robinson A, Starnes S, Iyer R, Megason G Outcome of hematopoietic cell transplantation in children with sickle cell disease, a single center's experience. Bone Marrow Transplant 2010; 45: 895–900.

    Article  CAS  PubMed  Google Scholar 

  19. Locatelli F, Rocha V, Reed W, Bernaudin F, Ertem M, Grafakos S et al. Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. Blood 2003; 101: 2137–2143.

    Article  CAS  PubMed  Google Scholar 

  20. Panepinto JA, Walters MC, Carreras J, Marsh J, Bredeson CN, Gale RP et al. Non-Malignant Marrow Disorders Working Committee, Center for International Blood and Marrow Transplant Research. Matched-related donor transplantation for sickle cell disease: report from the Center for International Blood and Transplant Research. Br J Haematol 2007; 137: 479–485.

    Article  PubMed  Google Scholar 

  21. McPherson ME, Hutcherson D, Olson E, Haight AE, Horan J, Chiang KY et al. Safety and efficacy of targeted busulfan therapy in children undergoing myeloablative matched sibling donor BMT for sickle cell disease. Bone Marrow Transplant 2010; 46: 27–33.

    Article  PubMed  Google Scholar 

  22. Lucarelli G, Isgrò A, Sodani P, Gaziev J Hematopoietic Stem cell transplantation in thalassemia and sickle cell anemia. Cold Spring Harb Perspect Med 2012; 2: a 011825.

    Article  Google Scholar 

  23. Walters MC, Storb R, Patience M, Leisenring W, Taylor T, Sanders JE et al. Impact of bone marrow transplantation for symptomatic sickle cell disease: an interim report. Multicenter investigation of bone marrow transplantation for sickle cell disease. Blood 2000; 95: 1918–1924.

    CAS  PubMed  Google Scholar 

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Acknowledgements

We are very grateful to Professor Franklin Bunn for his precious criticism and advices during the development of this study. There is no funding source to declare.

Author contributions

AI designed the research, analyzed data and wrote the paper. PS, MM, JG, KP, CG, LC, MR, CA, GDA, DA, OOA and TTW followed the clinical aspects of the patients. AA performed genetic analyses. MA and MT performed HLA typing and the assessment of chimerism. GL supervised the research and contributed to the writing of the paper. All authors approved the final manuscript.

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Authors and Affiliations

  1. International Center for Transplantation in Thalassemia and Sickle Cell Anemia, Mediterranean Institute of Hematology, Policlinic of the University of Roma Tor Vergata, Rome, Italy

    G Lucarelli, A Isgrò, P Sodani, M Marziali, J Gaziev, K Paciaroni, C Gallucci, L Cardarelli, M Ribersani, C Alfieri, G De Angelis, D Armiento, M Andreani & M Testi

  2. ANMI Onlus, Centro Studi Microcitemie, Rome, Italy

    A Amato

  3. Sickle Cell Foundation Nigeria, Lagos, Nigeria

    O O Akinyanju

  4. National Hospital, Abuja, Nigeria

    T T Wakama

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  1. G Lucarelli
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  2. A Isgrò
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  3. P Sodani
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  4. M Marziali
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  5. J Gaziev
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  6. K Paciaroni
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  7. C Gallucci
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  8. L Cardarelli
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  9. M Ribersani
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  10. C Alfieri
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  11. G De Angelis
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  12. D Armiento
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  13. M Andreani
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  14. M Testi
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  15. A Amato
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  16. O O Akinyanju
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  17. T T Wakama
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Correspondence to G Lucarelli.

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Lucarelli, G., Isgrò, A., Sodani, P. et al. Hematopoietic SCT for the Black African and non-Black African variants of sickle cell anemia. Bone Marrow Transplant 49, 1376–1381 (2014). https://doi.org/10.1038/bmt.2014.167

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