Publications
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Editing a γ-Globin Repressor Binding Site Restores Fetal Hemoglobin Synthesis and Corrects the Phenotype of Sickle Cell Disease Erythrocytes
Sickle cell disease (SCD) is caused by a single amino acid change in the adult hemoglobin (Hb) β-chain that causes Hb polymerization and red blood cell (RBC) sickling. The co-inheritance…
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Management of Age-associated Medical Complications in Patients with β-Thalassemia
Introduction: β-Thalassemia syndromes are among the most common monogenic disorders worldwide. Clinically, on the basis of the severity of the phenotype, β-thalassemias are classified into two groups: transfusion-dependent thalassemia (TDT)…
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Challenges of Blood Transfusions in β-Thalassemia
Patients with β-thalassemia major (BTM) require regular blood transfusions, supported by appropriate iron chelation therapy (ICT), throughout their life. β-thalassemia is a global disease that is most highly prevalent in Southeast Asia, Africa,…
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Understanding the Complications of Sickle Cell Disease
Sickle cell disease (SCD) is an autosomal recessive genetic condition that alters the shape and function of the hemoglobin molecule in red blood cells. While the overall survival rate among…
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Innovative Curative Treatment of Beta-Thalassemia: Cost-efficacy Analysis of Gene Therapy Versus Allogenic Hematopoietic Stem Cell Transplantation
Seventy-five percent of patients with beta thalassemia (β-thalassemia) do not have human leukocyte antigen–matched siblings and until recently had no access to a curative treatment. Gene therapy is a promising…
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Reduction of Cardiac Outcomes in Thalassemia Major Thanks to a Ten-year National Italian Networking
The MIOT (Myocardial Iron Overload in Thalassemia) Network was a network of thalassemia and CMR centers built in 2006 in order to assure homogeneous and standardized cardiac iron overload assessment…
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Need for a Universal Thalassemia Screening Programme in India? A Public Health Perspective
Thalassemia is one of the significant public health concerns as the carrier rate and disease numbers are increasing worldwide. The increase in number is because of consanguineous marriage which has…
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The Carrier State for Sickle Cell Disease Is Not Completely Harmless
Sickle cell disease (SCD) is a clinical syndrome caused by the presence of hemoglobin S (HbS), in which glutamic acid in position 6 of the β chain of hemoglobin is…
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Intrabone Hematopoietic Stem Cell Gene Therapy for Adult and Pediatric Patients Affected by Transfusion-dependent ß-Thalassemia
ß-thalassemia is caused by ß-globin gene mutations resulting in reduced (β+) or absent (β0) hemoglobin production. Patient life expectancy has recently increased, but the need for chronic transfusions in transfusion-dependent…
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Risk Factors for Mortality in Adult Patients with Sickle Cell Disease: A Meta-analysis of Studies in North America and Europe
Although recent studies show an improved survival of children with sickle cell disease in the US and Europe, for adult patients mortality remains high. This study was conducted to evaluate…
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