Publications
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2026 Update on Clinical Trials in β-Thalassemia
Abstract The therapeutic landscape of β-thalassemia has evolved rapidly over the past decade, shifting from a historical reliance on transfusion support and iron chelation toward disease-modifying and potentially curative therapies.…
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Long-Term Efficacy and Safety Results of Betibeglogene Autotemcel Gene Therapy for Transfusion-Dependent Β-Thalassemia
Abstract Betibeglogene autotemcel (beti-cel) gene therapy for transfusion-dependent β-thalassemia (TDT) involves autologous transplantation of hematopoietic stem and progenitor cells transduced with a modified β-globin gene to produce functional adult hemoglobin…
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Exa-cel in Children with Transfusion-Dependent β-Thalassemia or Sickle Cell Disease
Background Exagamglogene autotemcel (exa-cel) is a cell therapy in which autologous CD34+ hematopoietic cells are engineered through ex vivo clustered regularly interspaced short palindromic repeats–Cas9 editing of the erythroid-specific enhancer…
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Prospective Clinical Validation of Targeted Long-Read Sequencing for Preimplantation Genetic Testing of Α-Thalassaemia
Background: Preimplantation genetic testing for monogenic disorders (PGT-M) can prevent transmission of severe α-thalassaemia, but conventional workflows remain limited by family-specific assay design for direct variant detection, dependence on additional…
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Optimizing Outcomes snd Accessibility of Matched Sibling Donor Transplant for Transfusion Dependent Thalassemia in LMICs
Abstract Severe thalassemia is a life-threatening condition common in many low- and middle-income countries. While bone marrow transplantation (BMT) offers a curative option, its accessibility remains limited due to cost…
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Long-Term Survival Rates of Thalassemia Patients Following Hematopoietic Stem Cell Transplantation: A Systematic Review and Meta-Analysis
Abstract Background: Hematopoietic stem cell transplantation is the sole therapeutic approach that can provide a complete cure for thalassemia. However, this procedure is associated with complications that may have life-threatening…
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A Descriptive Preanalytical Survey of Procedures Followed for the Screening of Glucose Dysregulation in Thalassemia Centers: Implications for Clinical Practice and Call for Harmonization
Background: Over the last few decades, screening for dysglycemia in transfusion-dependent β-thalassemia patients (β-TDT) using an oral glucose tolerance test (OGTT) with fasting (FPG) and 2-hour plasma glucose (2h-PG) samples…
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Effects of Vitamin D Deficiency and Supplementation on Myocardial and Hepatic Iron Status and Function in Children with Beta-Thalassemia
Background: This study aimed to evaluate the prevalence of vitamin D deficiency and to assess the effects of vitamin D supplementation on myocardial and hepatic iron burden and organ function…
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Endocrinopathies and Growth in a UK Cohort of Children with Transfusion-Dependent Thalassaemia
Endocrine complications are recognised in transfusion‐dependent thalassaemia (TDT), largely due to iron overload. This is the first study in the United Kingdom evaluating growth and endocrine outcomes in children with…
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Pancreatic Iron Overload Is Associated With Early QTc Prolongation Before Myocardial Iron Deposition in Transfusion-Dependent Thalassemia
Objectives This cross-sectional study evaluated the 12-lead electrocardiogram (ECG) corrected QT (QTc) interval as an accessible marker for organ-specific iron burden in adult patients with transfusion-dependent thalassemia (TDT). Methods We…
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