Hemoglobinopathies, including thalassemias and sickle cell disease, are the most common monogenic diseases worldwide, with estimated annual births of more than 330,000 affected infants. Hemoglobin disorders account for about 3.4% of deaths in children under 5 years of age. The distribution of these diseases is historically linked to current or previously malaria-endemic regions; however, immigration has led to a worldwide distribution of these diseases, making them a global health problem. During the last decade, new treatment approaches and novel therapies have been proposed, some of which have the potential to change the natural history of these disorders. Indeed, the first erythroid maturation agent, luspatercept, and gene therapy have been approved for beta-thalassemia adult patients. For sickle cell disease, molecules targeting vaso-occlusion and hemoglobin S polymerization include crizanlizumab, which has been approved for patients = 16 years, voxelotor approved for patients = 12 years, and L-glutamine for patients older than 5 years.Conclusion: We herein present the most recent advances and future perspectives in thalassemia and sickle cell disease treatment, including new drugs, gene therapy, and gene editing, and the current clinical trial status in the pediatric populations.

Therapeutic perspective for children and young adults living with thalassemia and sickle cell disease / M. Ferraresi, D.L. Panzieri, S. Leoni, M.D. Cappellini, A. Kattamis, I. Motta. - In: EUROPEAN JOURNAL OF PEDIATRICS. - ISSN 0340-6199. - (2023), pp. 1-11. [Epub ahead of print] [10.1007/s00431-023-04900-w]

Therapeutic perspective for children and young adults living with thalassemia and sickle cell disease

M. Ferraresi
Primo
;
D.L. Panzieri
Secondo
;
S. Leoni;M.D. Cappellini;I. Motta
Ultimo
2023

Abstract

Hemoglobinopathies, including thalassemias and sickle cell disease, are the most common monogenic diseases worldwide, with estimated annual births of more than 330,000 affected infants. Hemoglobin disorders account for about 3.4% of deaths in children under 5 years of age. The distribution of these diseases is historically linked to current or previously malaria-endemic regions; however, immigration has led to a worldwide distribution of these diseases, making them a global health problem. During the last decade, new treatment approaches and novel therapies have been proposed, some of which have the potential to change the natural history of these disorders. Indeed, the first erythroid maturation agent, luspatercept, and gene therapy have been approved for beta-thalassemia adult patients. For sickle cell disease, molecules targeting vaso-occlusion and hemoglobin S polymerization include crizanlizumab, which has been approved for patients = 16 years, voxelotor approved for patients = 12 years, and L-glutamine for patients older than 5 years.Conclusion: We herein present the most recent advances and future perspectives in thalassemia and sickle cell disease treatment, including new drugs, gene therapy, and gene editing, and the current clinical trial status in the pediatric populations.
Crizanlizumab; Gene editing; Gene therapy; Luspatercept; Sickle cell disease; Thalassemia;
Settore MED/09 - Medicina Interna
Settore MED/15 - Malattie del Sangue
2023
31-mar-2023
Article (author)
File in questo prodotto:
File Dimensione Formato  
s00431-023-04900-w (1).pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 1.07 MB
Formato Adobe PDF
1.07 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/969037
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact