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Survival and late effects of hematopoietic cell transplantation in patients with thalassemia major

Bone Marrow Transplantation volume 57, pages 1689–1697 (2022)Cite this article

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Abstract

In this retrospective study, we evaluated long-term survival and late effects in 137 patients affected by thalassemia major (TM) who received an allogeneic hematopoietic cell transplantation (HCT). Median age at HCT was 10.1 years. After a median follow-up of 30 years, 114 (83.2%) patients are living and 108 (78.8%) are cured. The cumulative incidence of nonrelapse mortality and thalassemia recurrence was 9.5% at 1 year and 10.2% at 39 years respectively. The 39-years cumulative incidence of overall survival and disease-free survival were 81.4% and 74.5%. One hundred twenty-three patients who survived more than 2 years after HCT were evaluated for late effects concerning hematological disorders, iron burden, growth, obesity, diabetes mellitus, thyroid and gonadal function, eye, heart, liver, lung, kidney, gastrointestinal, neurologic and psychiatric system, osteoarticular system, secondary solid cancer (SSC), performance status, and Covid-19 infection. Fertility was preserved in 21 males whose partners delivered 34 neonates and 25 females who delivered 26 neonates. Fifteen cases of SSC were diagnosed for a 39-year cumulative incidence of 16.4%. HCT represents a definitive cure for the majority of TM patients at the price, however, of a non-negligible early and late mortality which in the long run affects survival and disease-free survival.

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Fig. 1: Outcomes of allogeneic cell transplantation in all patients affected by thalassemia major.

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Data availability

The datasets generated during and/or analyzed during the current study are available upon reasonable request from the corresponding authors.

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Acknowledgements

The authors thank all of the patients with their families and the outstanding team at the Bone Marrow Transplant Center, the UOSD Tissue Institute and Bio-Banks and the UOC Transfusion Center of the Department of Oncology Hematology at the Ospedale Civile of Pescara.

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Authors and Affiliations

  1. Bone Marrow Transplant Center, Department of Oncology Hematology, Ospedale Civile, Pescara, Italy

    Stella Santarone, Annalisa Natale, Doriana Vaddinelli, Raffaele Spadano, Paola Casciani & Paolo Di Bartolomeo

  2. UOC Ematologia e Terapia Cellulare, Ospedale Mazzoni, Ascoli Piceno, Italy

    Stefano Angelini

  3. Centro Regionale Immunoematologia, Ospedale San Salvatore, L’Aquila, Italy

    Franco Papola

  4. UOSD Ecografia Internistica, Ospedale Civile, Pescara, Italy

    Enza Di Lembo & Giovanni Iannetti

Authors
  1. Stella Santarone
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  2. Stefano Angelini
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  10. Paolo Di Bartolomeo
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Contributions

SS, PDB contributed patients, designed the study, analyzed the data, and wrote the manuscript; SA performed statistical study and contributed to the interpretation of the results; AN, DV, RS, PC contributed to data acquisition, analyzed the data, and wrote the paper; FP performed HLA typing and evaluated the chimerism; EDL, GI performed the liver evaluation by transient elastography. All authors read and critically reviewed the manuscript and approved the final version.

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Correspondence to Stella Santarone.

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Santarone, S., Angelini, S., Natale, A. et al. Survival and late effects of hematopoietic cell transplantation in patients with thalassemia major. Bone Marrow Transplant 57, 1689–1697 (2022). https://doi.org/10.1038/s41409-022-01786-4

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