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Essays

Vol. 158 No. 2 (2025): Rendiconti. Mathematics and Natural Sciences Class

From research to clinical practice: the example of hemoglobinopathies

  • Maria Domenica Cappellini
DOI
https://doi.org/10.3280/rndoa2025oa21165
Submitted
ottobre 1, 2025
Published
2026-02-17

Abstract

The hemoglobinopathies are hereditary red cell disorders due to an abnormal globin chain that leads to ineffective erythropoiesis and consequent anemia. According to the globin chain defect two main groups could be distinguished: i. hemoglobin variants (more than 400) that cause an abnormal function of the hemoglobin such as different O2 affinity, dehydration etc. Among these, the most clinically relevant is HbS (sickle cell anemia) very common in Africa and South-east Asia. ii. thalassemia forms due to a reduced or absent production of the affected globin, leading to different amounts of ineffective erythropoiesis and consequent anemia. The most severe forms of thalassemia (usually homozygous for severe beta globin mutations) are transfusion dependent, which means that patients should receive 2/3 units of red blood cells transfusions every 2/3 weeks along life. The hemoglobinopathies are prevalent in Africa, South-east Asia, middle east and Mediterranean basin however due to recent migration they are spread all over the word. During the last decade gene therapy and novel pharmacological therapies have been developed for the cure of such disorders.

References

  1. Baronciani D., Angelucci E., Potschger U., Gaziev J., Yesilipek A., Zecca M. et al. (2016). Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000-2010. In: «Bone Marrow Transplant», 51(4): 536-541.
  2. Cappellini M.D. and Motta I. (2017). New therapeutic targets in transfusion-dependent tha-lassemia. In: «Hematology Am Soc hematol Educ Program».
  3. Cappellini M.D., Viprakasit V., Georgiev P. et al. (2025). Long-term efficacy and safety of luspatercept for the treatment of anaemia in patients with transfusion-dependent beta-thalassemia (BELIEVE): final results from a phase 3 randomized trial. In: «Lancet Haematol», 12(3): e180-e189.
  4. Cappellini M.D., Viprakasit V., Taher A.T. et al. (2020). A phase 3 trial of Luspatercept in patients with transfusion dependent beta-thalassemia. In: «N Engl J Med», 382: 12319-1231.
  5. Hadroj M.H., Klim J., Charbel N. and Taher A. (2025). Mitapivat: a step forward across different hemolytic diseases. In: «Expert Opin Emerg Drug», 29:1-3.
  6. Harteveld C.L., Achour A., Arkesteijn S.J.G., Ter Huurne J., Verschuren M., Bhagwandien-Bisoen S. et al. (2022). The hemoglobinopathies, molecular disease mechanisms and diagnostics. In: «Int J Lab Hematol», 44 (Suppl 1): 28-36.
  7. Musallam K.M., Cappellini M.D., Porter J.B. et al. (2025). TIF guidelines for the manage-ment of transfusion-dependent beta thalassemia. In: «Hemasphere», 9(3): e70095.
  8. Musallam K.M., Taher A.T. and Cappellini M.D. (2022). Right in time: Mitapivat for the treatment of anemia in α- and β-thalassemia. In: «Cell Rep med», 3(10): 100790.
  9. Panzieri D.L., Consonni D., Scaramellini N. et al. (2024). Real-world efficacy and safety of luspatercept and predictive factors of response in patients with transfusion-dependent beta-thalassemia. In: «Am J Hematol», 99(12): 2395-2398.
  10. Scaramellini N., Panzieri D.L. and Cappellini M.D. (2025). Gene therapy for sickle cell disease and thalassemia. In: «Curr Opin Hematol», 1, 32: 120-129.
  11. Taher A.T., Musallam K.M. and Cappellini M.D. (2021). β-Thalassemias. In: «N Engl J Med», 384(8): 727-743.
  12. Taher A.T., Weatherall D.J. and Cappellini M.D. (2018). Thalassemia. In: «Lancet», 391: 155-167.
  13. Thomas E.D., Buckner C.D., Sanders J.E. et al. (1982). Marrow transplantation for thalas-semia. In: «Lancet» 2: 227-229.