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Emerging Therapies and Strategies in Thalassemia: Toward a New Era in Management—2nd Edition

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: 25 August 2025 | Viewed by 5312

Special Issue Editors

Dr. Paolo Ricchi

E-Mail Website
Guest Editor
Center for Rare Red Blood Cell Diseases, AORN A. Cardarelli, Naples, Italy
Interests: thalassemias; hemoglobinopathies; iron chelation therapy; cancer
Special Issues, Collections and Topics in MDPI journals
Dr. Raffaella Origa

E-Mail Website
Guest Editor
SSD Talassemia, Ospedale Pediatrico Microcitemico Cao, Università di Cagliari, 09124 Cagliari, Italy
Interests: iron overload and toxicity; iron chelation; thalassemias; novel treatments in hemoglobinopathies; hepatocellular carcinoma

Special Issue Information

Dear Colleagues,

We are pleased to invite you to contribute to the Special Issue "Emerging Therapies and Strategies in Thalassemia: Toward a New Era in Management—2nd Edition". This is a new edition; we published seven papers in the first volume. For more details, please visit https://www.mdpi.com/journal/jcm/special_issues/Thalassemia_Management.

Until a few years ago, HSCT was the only cure able to modify the natural history of thalassemia syndromes; nevertheless, survival and quality of life in patients with thalassemia have been significantly improved with standard therapies comprising red blood cell transfusion and iron chelation, which represent a longstanding approach. On the other hand, aging and increase in life expectancy are disclosing a complex scenario of multiple disease-related morbidities, including osteoporosis, endocrine disorders, liver disease, renal dysfunction, and cancer. Therefore, new strategies are needed to achieve further control of disease burden. Looking at the pathophysiological mechanisms of beta-thalassemia, new drugs able to ameliorate globin synthesis, reducing ineffective erythropoiesis, chain imbalance, and iron overload, have been undergoing testing for a few years now. Furthermore, considering standard treatments, there is still the need to provide more strength of scientific evidence with long-term prospective observations or, if possible, with randomized trials. Similarly, to correctly manage the wide spectrum of thalassemia syndromes, biomarkers able to assess preventive and curative treatments in selected populations at increased risk of developing complications and to correctly evaluate interventional procedures in a homogeneous population are also needed.

This Special Issue on “Emerging Therapies and Strategies in Thalassemia: Toward a New Era in Management” aims to update researchers and clinicians by highlighting the main points that could represent a remarkable therapeutic advancement or improvement in the management made recently in the field of thalassemia syndromes.

Dr. Paolo Ricchi
Dr. Raffaella Origa
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • HSCT
  • gene therapy
  • new drugs
  • iron chelation
  • aging
  • long-term observation
  • biomarkers
  • new strategies

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Related Special Issue

Published Papers (4 papers)

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Research

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14 pages, 615 KiB  
Article
iFGF23 Plasma Levels in Transfusion-Dependent β-Thalassemia: Insights into Bone and Iron Metabolism
by Alberto Gobbo, Filomena Longo, Camilla Alice Cattaneo, Martina Verrienti, Gianluca Marzi, Fatima Chamekh, Martina Culcasi, Alberto Cossu, Maria Chiara Zatelli and Maria Rosaria Ambrosio
J. Clin. Med. 2025, 14(6), 1834; https://doi.org/10.3390/jcm14061834 - 8 Mar 2025
Viewed by 848
Abstract
Background: FGF23 is a phosphate homeostasis regulator; the literature suggests a link between FGF23, iron homeostasis and erythropoiesis. Little is known about the FGF23 level variations in β-thalassemia (βT), which is characterized by ineffective erythropoiesis and iron overload. Our cross-sectional study aims to [...] Read more.
Background: FGF23 is a phosphate homeostasis regulator; the literature suggests a link between FGF23, iron homeostasis and erythropoiesis. Little is known about the FGF23 level variations in β-thalassemia (βT), which is characterized by ineffective erythropoiesis and iron overload. Our cross-sectional study aims to evaluate the iFGF23 level variations in a large cohort of βT patients considering their bone mineral densities (BMDs) and iron loads. Methods: Clinical, biochemical and radiological data were collected from 213 transfusion-dependent βT (TDT) adults referring to the Regional HUB Centre for Thalassaemia and Haemoglobinopathies in Ferrara, Italy. The iFGF23 levels in the TDT patients were compared to the general population’s reference range. The BMDs and hearth and liver iron deposits were assessed with DEXA scans and MRI, respectively. Results: The iFGF23 distribution in the TDT subjects is significantly different from that of the general population. The iFGF23 levels are positively correlated with the age at transfusion initiation and calcium and phosphate levels and are negatively correlated with the osteocalcin plasma levels. Patients treated with deferasirox had lower iFGF23 levels than those treated with other chelators. The iFGF23 levels are not correlated with the BMD or iron status. Conclusions: These findings provide insights into the relationship between the iFGF23 and bone and iron metabolism in TDT patients. Further studies are needed to explore its potential clinical relevance. Full article
(This article belongs to the Special Issue Emerging Therapies and Strategies in Thalassemia: Toward a New Era in Management—2nd Edition)
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14 pages, 938 KiB  
Article
Prognostic Role of Multiparametric Cardiac Magnetic Resonance in Neo Transfusion-Dependent Thalassemia
by Antonella Meloni, Laura Pistoia, Paolo Ricchi, Aurelio Maggio, Valerio Cecinati, Filomena Longo, Francesco Sorrentino, Zelia Borsellino, Alessandra Salvo, Vincenza Rossi, Emanuele Grassedonio, Gennaro Restaino, Stefania Renne, Riccardo Righi, Vincenzo Positano and Filippo Cademartiri
J. Clin. Med. 2024, 13(5), 1281; https://doi.org/10.3390/jcm13051281 - 23 Feb 2024
Cited by 1 | Viewed by 1324
Abstract
Background: We prospectively evaluated the predictive value of multiparametric cardiac magnetic resonance (CMR) for cardiovascular complications in non-transfusion-dependent β-thalassemia (β-NTDT) patients who started regular transfusions in late childhood/adulthood (neo β-TDT). Methods: We considered 180 patients (38.25 ± 11.24 years; 106 females). CMR was [...] Read more.
Background: We prospectively evaluated the predictive value of multiparametric cardiac magnetic resonance (CMR) for cardiovascular complications in non-transfusion-dependent β-thalassemia (β-NTDT) patients who started regular transfusions in late childhood/adulthood (neo β-TDT). Methods: We considered 180 patients (38.25 ± 11.24 years; 106 females). CMR was used to quantify cardiac iron overload, biventricular function, and atrial dimensions, and to detect left ventricular (LV) replacement fibrosis. Results: During a mean follow-up of 76.87 ± 41.60 months, 18 (10.0%) cardiovascular events were recorded: 2 heart failures, 13 arrhythmias (10 supraventricular), and 3 cases of pulmonary hypertension. Right ventricular (RV) end-diastolic volume index (EDVI), RV mass index (MI), LV replacement fibrosis, and right atrial (RA) area index emerged as significant univariate prognosticators of cardiovascular complications. The low number of events prevented us from performing a multivariable analysis including all univariable predictors simultaneously. Firstly, a multivariable analysis including the two RV size parameters (mass and volume) was carried out, and only the RV MI was proven to independently predict cardiovascular diseases. Then, a multivariable analysis, including RV MI, RA atrial area, and LV replacement fibrosis, was conducted. In this model, RV MI and LV replacement fibrosis emerged as independent predictors of cardiovascular outcomes (RV MI: hazard ratio (HR) = 1.18; LV replacement fibrosis: HR = 6.26). Conclusions: Our results highlight the importance of CMR in cardiovascular risk stratification. Full article
(This article belongs to the Special Issue Emerging Therapies and Strategies in Thalassemia: Toward a New Era in Management—2nd Edition)
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Review

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14 pages, 2396 KiB  
Review
Are Mitochondria a Potential Target for Treating β-Thalassemia?
by Elena Di Pierro, Valeria Di Stefano, Margherita Migone De Amicis and Giovanna Graziadei
J. Clin. Med. 2025, 14(4), 1095; https://doi.org/10.3390/jcm14041095 - 8 Feb 2025
Viewed by 882
Abstract
The inherited genetic disorder β-thalassemia affects the hematopoietic system and is caused by the low production or absence of adult hemoglobin (HbA). Ineffective erythropoiesis is the hallmark of β-thalassemia pathophysiology and is characterized by an erythropoietin-driven substantial increase in erythroblast proliferation, coupled with [...] Read more.
The inherited genetic disorder β-thalassemia affects the hematopoietic system and is caused by the low production or absence of adult hemoglobin (HbA). Ineffective erythropoiesis is the hallmark of β-thalassemia pathophysiology and is characterized by an erythropoietin-driven substantial increase in erythroblast proliferation, coupled with an increase in late-stage precursor apoptosis, which results in low levels of circulating mature red blood cells (RBCs) and chronic anemia. Mitochondrial dysfunction commonly occurs in these cells because of the increased demand for energy production and the need to manage abnormal hemoglobin chain synthesis. Moreover, several studies have highlighted the importance of gradual mitochondrial clearance for mature erythroid cell production. This review offers an overview of the mitochondrial role in essential cellular processes, particularly those crucial for maintaining RBC health and function. Additionally, recent evidence regarding the contribution of mitochondrial dysfunction to the pathophysiology and severity of β-thalassemia is discussed, along with updated insights into indirect mitochondria-targeting treatments, which present potential pharmacological targets. Full article
(This article belongs to the Special Issue Emerging Therapies and Strategies in Thalassemia: Toward a New Era in Management—2nd Edition)
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9 pages, 560 KiB  
Review
Vamifeport: Monography of the First Oral Ferroportin Inhibitor
by Federica Pilo and Emanuele Angelucci
J. Clin. Med. 2024, 13(18), 5524; https://doi.org/10.3390/jcm13185524 - 18 Sep 2024
Cited by 3 | Viewed by 1659
Abstract
Over the last few years, several mechanisms that are involved in congenital diseases characterized by ineffective erythropoiesis have been described. Therefore, multiple new target drugs are being developed in preclinical models against the main regulators of normal erythropoiesis. Above all, the key mechanism [...] Read more.
Over the last few years, several mechanisms that are involved in congenital diseases characterized by ineffective erythropoiesis have been described. Therefore, multiple new target drugs are being developed in preclinical models against the main regulators of normal erythropoiesis. Above all, the key mechanism that regulates systemic iron homeostasis, represented by the hepcidin–ferroportin axis, is considered to be the target for new therapies. The main hypothesis is that iron restriction, through blocking ferroportin (the unique iron transporter in mammals) in such diseases, ameliorates erythropoiesis. The action of vamifeport is different from the currently approved drugs in this setting since it acts straight on the ferroportin–hepcidin axis. The data presented in the sickle cell disease (SCD) Townes mouse model showed a preclinical proof-of-concept for the efficacy of oral ferroportin inhibitor. Vamifeport reduced hemoglobin concentration in red blood cells (RBCs) and diminished intravascular hemolysis and inflammation, improving hemodynamics and preventing vascular occlusive crises. On this basis, clinical trials were commenced in patients with SCD, non-transfusion-dependent (NTD) thalassemia and transfusion-dependent (TD) thalassemia. Preliminary data in NTD thalassemic patients also confirm the safety and efficacy in decreasing iron level. In conclusion, vamifeport represents a new option in the panorama of drugs targeting the hepcidin–ferroportin axis, but its efficacy is still under investigation as a single agent. Full article
(This article belongs to the Special Issue Emerging Therapies and Strategies in Thalassemia: Toward a New Era in Management—2nd Edition)
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