Publications
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Safety and Efficacy of Mitapivat, an Oral Pyruvate Kinase Activator, in Adults with Non-Transfusion Dependent α-Thalassaemia or β-Thalassaemia: An Open-label, Multicentre, Phase 2 Study
Background: Patients with non-transfusion-dependent thalassaemia (NTDT), although they do not require regular blood transfusions for survival, can still accrue a heavy burden of comorbidities. No approved disease-modifying therapies exist for these…
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New Entity—Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement
Beta-thalassemia (BTH), a recessively inherited haemoglobin (Hb) disorder, causes iron overload (IO), extra-medullary haematopoiesis and bone marrow expansion with major clinical impact. The main objective of this review is to…
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2021 Thalassaemia International Federation Guidelines for the Management of Transfusion-dependent Thalassemia
Beta-thalassemia and particularly its transfusion-dependent form (TDT) is a demanding clinical condition, requiring life-long care and follow-up, ideally in specialized centers and by multidisciplinary teams of experts. Despite the significant…
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A Short Guide for the Management of Transfusion-Dependent Thalassaemia (2nd edition – 2022)
Prepared by: Farmakis, D. Reviewed by: Eleſtheriou, A., Bain, B.
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Frequency, Pattern, and Associations of Renal Iron Accumulation in Sickle/β-Thalassemia Patients
We evaluated frequency, pattern, and associations of renal iron accumulation in sickle/β-thalassemia. Thirty-three sickle/β-thalassemia patients (36.5 ± 14.7 years; 13 females), 14 homozygous sickle cell disease (SCD) patients, and 71 thalassemia major (TM)…
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Pharmacological Induction of Fetal Hemoglobin in β-Thalassemia and Sickle Cell Disease: An Updated Perspective
A significant amount of attention has recently been devoted to the mechanisms involved in hemoglobin (Hb) switching, as it has previously been established that the induction of fetal hemoglobin (HbF)…
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Promoting Adherence to Iron Chelation Treatment in Beta-Thalassemia Patients
Thalassaemia is one of the commonest inherited genetic disorders world-wide with around 25,000 births of the most severely affected transfusion dependent children annually. Patients with transfusion dependent thalassaemia require regular…
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Sickle Cell Disease Related Mortality in Brazil, 2000-2018
Introduction There is a demand to update national mortality trends data related to sickle cell disease (SCD) in Brazil. This study describes causes of death and mortality issues related to…
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l-glutamine, crizanlizumab, voxelotor, and cell-based therapy for adult sickle cell disease: Hype or hope?
For more than two decades, hydroxyurea was the only therapeutic agent approved by the Food and Drug Administration (FDA) for sickle cell disease (SCD). Although curative allogeneic hematopoietic stem cell transplants (allo-HSCT) were also available, only…
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Kidney Stones in Transfusion-Dependent Thalassemia: Prevalence and Risk Factors
As patients with transfusion-dependent thalassemia (TDT) are living longer, novel morbidities are being recognized. The purpose of this review is to summarize the current knowledge regarding the prevalence and risk…
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