Catherine Skari

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…

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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…

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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,…

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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…

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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…

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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…

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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…

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Neutropenia in Adult Patients with Thalassemia Receiving Deferiprone: A 10-Year Experience From a Large Thalassemia Cohort

Background: Deferiprone (DFP) is an effective oral iron chelator widely used in adult patients with thalassemia, particularly for cardiac iron…

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Atrial Fibrillation Prevalence and its Management in Aging, Transfusion-Dependent Patients with Thalassemia: The FATHAL Study

Abstract Atrial fibrillation (AF) represents an emerging challenge in thalassemia due to the increasing life expectancy. However, data are limited,…

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MRI-Derived Hepatic Fat and its Clinical Correlates in Non–Transfusion-Dependent Thalassemia: A Cross-Sectional Study

Abstract We quantified hepatic fat fraction (FF) by magnetic resonance imaging (MRI) in non–transfusion-dependent thalassemia (NTDT) patients, and we evaluated…

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