Publications
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The Prevention of Thalassemia Revisited: A Historical and Ethical Perspective by the Thalassemia International Federation
Hemoglobinopathies are the most common monogenic disorders in humans; among them, thalassemia constitutes a serious medical and public health problem in high prevalence regions, in a geographical zone ranging from…
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Nutrition in Thalassemia: A Systematic Review of Deficiency, Relations to Morbidity, and Supplementation Recommendations
Reports of nutritional deficiencies in patients with thalassemia (Thal) are common. Despite its importance, however, nutritionally focused research in Thal has been limited by inadequate sample size, inconsistent methodology, a…
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Gene Therapy of the Hemoglobinopathies
Sickle cell disease and the ß-thalassemias are caused by mutations of the ß-globin gene and represent the most frequent single gene disorders worldwide. Even in European countries with a previous…
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Challenging the Erythropoiesis Paradigm in β-Thalassemia
β-thalassemia is a genetic disorder due to defective β-globin synthesis that results in severe anemia. A hallmark of the disease is the massive expansion of the erythroid compartment associated with…
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Effects of A-Tocopherol on Hemolysis and Oxidative Stress Markers on Red Blood Cells in β-Thalassemia Major
The accumulation of unpaired α-globin chains in patients with β-thalassemia major may clinically create ineffective erythropoiesis, hemolysis, and chronic anemia. Multiple blood transfusions and iron overload cause cellular oxidative damage.…
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Recommendations for Pregnancy in Rare Inherited Anemias
Rare inherited anemias are a subset of anemias caused by a genetic defect along one of the several stages of erythropoiesis or in different cellular components that affect red blood…
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Update in Laboratory Diagnosis of Thalassemia
Alpha- and β-thalassemias and abnormal hemoglobin (Hb) are common in tropical countries. These abnormal globin genes in different combinations lead to many thalassemic diseases including three severe thalassemia diseases, i.e.,…
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Sickle Cell Pain Crisis: Clinical Guidelines for the Use of Oxygen
Nocturnal hypoxemia is a prelude to vaso‐occlusive crisis (VOC). Vascular occlusion and disruption of tissue oxygenation are a prequel to excruciating pain, chest splinting with further hypoxemia, acute chest syndrome,…
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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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