Thalassaemia is a diverse group of genetic disorders with a worldwide distribution affecting
globin chain synthesis. The pathogenesis of thalassaemia lies in the unbalanced globin …

Abstract β-Thalassemia is one of the most common monogenetic diseases worldwide, with a
particularly high prevalence in the Middle East region. As such, we have developed long …

Thalassemia syndromes are characterized by the inability to produce normal hemoglobin.
Ineffective erythropoiesis and red cell transfusions are sources of excess iron that the human …

Diamond‐Blackfan anaemia (DBA) is a rare inherited marrow failure disorder, characterized
by hypoplastic anaemia, congenital anomalies and a predisposition to cancer as a result of …

Introduction Ineffective erythropoiesis and subsequent anemia as well as primary and
secondary (transfusional) iron overload are key drivers for morbidity and mortality outcomes …

Objective Multisystem iron poisoning is a major concern for long-term beta-thalassemia
management. Quantitative MRI-based techniques routinely show iron overload in heart …

Monitoring liver and cardiac iron stores by magnetic resonance imaging (MRI) enables
identifying patients at risk of organ-specific morbidity and better tailoring of iron chelation …

Pyruvate kinase (PK) deficiency is a rare, hereditary disease characterized by chronic
hemolytic anemia. Iron overload is a common complication regardless of age, genotype, or …

Rare hereditary anemias (RHA) represent a group of disorders characterized by either
impaired production of erythrocytes or decreased survival (ie, hemolysis). In RHA, the …

Despite a decrease in prevalence and incidence rates, beta thalassemia continues to
represent a significant public health challenge worldwide. In high-resource settings, children …