Scientific Literature
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Health‑Related Quality‑of‑Life Impacts Associated with Transfusion‑Dependent β‑Thalassemia in the USA and UK: A Qualitative Assessment
Background: Individuals living with transfusion-dependent β-thalassemia (TDT) experience reduced health-related quality of life due to fatigue and chronic pain, which cause disruptions to daily life. Currently, limited qualitative data exist…
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Guideline for the Management of Conception and Pregnancy in Thalassaemia Syndromes: A British Society for Haematology Guideline
This comprehensive guideline, developed by a representative group of UK-based medical experts specialising in haemoglobinopathies, addresses the management of conception and pregnancy in patients with thalassaemia. A systematic search of…
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Haemoglobinopathies and Other Rare Anemias in Spain: Ten Years of a Nationwide Registry (REHem-AR)
REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of…
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Predicting Factors of Survival Rates Among α-and β-Thalassemia Patients: A Retrospective 10-Year Data Analysis
Background: Thalassemia is a genetic hemoglobinopathy in which a defective globin chain can cause transfusion-dependent anemia and other complications. As genotype interactions lead to variations in the clinical course among patients…
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An International Learning Collaborative Phase 2 Trial for Haploidentical Bone Marrow Transplant in Sickle Cell Disease
In the setting of a learning collaborative, we conducted an international multicentre phase 2 clinical trial testing the hypothesis that non-myeloablative related haploidentical BMT with thiotepa and post-transplant cyclophosphamide (PTCy)…
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Defining Curative Endpoints for Transfusion-Dependent β-Thalassemia in the Era of Gene Therapy and Gene Editing
β-thalassemia is a monogenic disease that results in varying degrees of anemia. In the most severe form, known as transfusion-dependent β-thalassemia (TDT), the clinical hallmarks are ineffective erythropoiesis and a…
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Systematic Review and Evidence Gap Assessment of the Clinical, Quality of Life, and Economic Burden of Alpha-Thalassemia
A recent evidence gaps assessment of the clinical, health-related quality of life, and economic burden associated with α-thalassemia is lacking. We conducted a systematic literature review (SLR) following the methodological…
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Magnitude of Bone Disease in Transfusion-Dependent and Non-Transfusion-Dependent β-Thalassemia Patients
Introduction: β-Thalassemia is a common inherited disease in the northern part of Iraq. A considerable number of transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) β-thalassemia patients suffer bone problems. The objective of…
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Alpha-Thalassemia: A Practical Overview
α-Thalassemia is an inherited blood disorder characterized by decreased synthesis of α-globin chains that results in an imbalance of α and β globin and thus varying degrees of ineffective erythropoiesis, decreased red blood cell (RBC)…
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The Italian Breakthrough in CRISPR trials for Rare Diseases: A focus on β-Thalassemia and Sickle Cell Disease Treatment
The development of gene therapy and the current advantageous method of clustered regularly interspaced short palindromic repeats (CRISPRs) has allowed the implementation of several clinical trials aimed at studying the…
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