Dordevic A, Mrakovcic-Sutic I, Pavlovic S, Ugrin M, Roganovic J. Beta thalassemia syndromes: New insights. World J Clin Cases 2025; 13(10): 100223 [DOI: 10.12998/wjcc.v13.i10.100223]
Corresponding Author of This Article
Jelena Roganovic, MD, PhD, Department of Pediatric Hematology and Oncology, Children’s Hospital Zagreb, Klaiceva 16, Zagreb 10000, Croatia. jelena.roganovic@kdb.hr
Research Domain of This Article
Hematology
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Ana Dordevic, Ines Mrakovcic-Sutic, Sonja Pavlovic, Milena Ugrin, Jelena Roganovic
Ana Dordevic, Department of Business Development, Jadran Galenski Laboratorij, Rijeka 51000, Croatia
Ines Mrakovcic-Sutic, Faculty of Medicine, University of Rijeka, Rijeka 51000, Croatia
Sonja Pavlovic, Milena Ugrin, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade 11000, Serbia
Jelena Roganovic, Department of Pediatric Hematology and Oncology, Children’s Hospital Zagreb, Zagreb 10000, Croatia
Jelena Roganovic, Faculty of Biotechnology and Drug Development, University of Rijeka, Rijeka 51000, Croatia
Author contributions: Dordevic A performed the research and wrote the original draft; Mrakovcic-Sutic I contributed to the design of the manuscript, and supervision; Pavlovic S was involved in conceptualization, writing, and supervision; Ugrin M contributed to the writing and literature review; Roganovic J designed the overall concept, and is responsible for the editing and submission of the current version of the manuscript.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jelena Roganovic, MD, PhD, Department of Pediatric Hematology and Oncology, Children’s Hospital Zagreb, Klaiceva 16, Zagreb 10000, Croatia. jelena.roganovic@kdb.hr
Received: August 10, 2024 Revised: November 6, 2024 Accepted: December 2, 2024 Published online: April 6, 2025 Processing time: 130 Days and 18.4 Hours
Abstract
Beta thalassemia (β-thalassemia) syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the hemoglobin. The hallmarks of the disease include ineffective erythropoiesis, chronic hemolytic anemia, and iron overload. Clinical presentation ranges from asymptomatic carriers to severe anemia requiring lifelong blood transfusions with subsequent devastating complications. The management of patients with severe β-thalassemia represents a global health problem, particularly in low-income countries. Until recently, management strategies were limited to regular transfusions and iron chelation therapy, with allogeneic hematopoietic stem cell transplantation available only for a subset of patients. Better understanding of the underlying pathophysiological mechanisms of β-thalassemia syndromes and associated clinical phenotypes has paved the way for novel therapeutic options, including pharmacologic enhancers of effective erythropoiesis and gene therapy.
Core Tip: Beta thalassemia syndromes are among the most common monogenic disorders worldwide, characterized by impaired hemoglobin synthesis that leads to ineffective erythropoiesis, chronic hemolysis, iron overload, and subsequent complications. The clinical manifestations are diverse, as a result of the underlying beta-globin gene variants and the coinheritance of modifying factors. Recent advances in the understanding of the underlying molecular and cellular mechanisms have facilitated the development of novel therapeutic strategies. The purpose of this article is to briefly describe new insights in the pathophysiology of this old disease, and discuss revolutionary changes in the treatment landscape for severe forms of beta thalassemia.
