Scientific Literature
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Modelling the Cost-Effectiveness of Non-Invasive Prenatal Testing in the English Sickle Cell and Thalassaemia Screening Pathway
Background: Sickle cell disease (SCD) and thalassaemia are inherited conditions causing chronic anaemia, increased infection risk, and multi-organ failure. Standard of care (SoC) prenatal screening involves carrier blood testing for…
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Prevalence of Severe Thalassemia and Performance of Prenatal Screening Tests Among Pregnant Women at Siriraj Thalassemia Center in Thailand
Abstract Severe thalassemia remains a significant public health concern in Southeast Asia. Prenatal screening is an effective strategy for early detection and prevention. This study aimed to determine the prevalence…
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Systematic Review of Economic Evaluations in Thalassaemia Screening Programmes Globally: Developing Guidance for Low- and Middle-Income (LMIC) Settings
Objectives Thalassaemia, a genetic blood disorder, is a major public health burden. Most affected individuals reside in low-and-middle-income countries (LMICs). Screening programmes can reduce incidence, but in resource-constrained settings, cost-effectiveness…
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Outcomes With Luspatercept in Patients With Β-Thalassemia: A Systematic Review and Metaanalysis
Abstract Background: β-thalassaemia is a genetic blood disorder marked by ineffective erythropoiesis and chronic anaemia, often requiring lifelong red blood cell (RBC) transfusions. Luspatercept, an erythroid maturation agent, has emerged as…
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Evaluating Mitapivat for the Treatment of Alpha or Beta Thalassemia
INTRODUCTION Thalassemia is a group of diverse genetic disorders with worldwide distribution that affect hemoglobin synthesis. Until recently, the therapeutic approach to thalassemia was symptomatic, relying on red blood cell…
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Phase 2a Randomized Study to Evaluate Sapablursen in Patients With Non-Transfusion Dependent Β-Thalassemia Intermedia
Non-transfusion-dependent β-thalassemia intermedia (NTDT) is a genetically heterogeneous disorder characterized by decreased β-globin production in erythroid cells resulting from mutations in the β-globin gene that is not treated with transfusion.…
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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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