Genetic syndrome of ineffective erythropoiesis caused by mutations of the beta-globin gene.
Spectrum of severity from asymptomatic to severe anaemia and skeletal changes.
Blood transfusions are required for beta-thalassaemia intermedia and major, but are associated with iron overload complications.
Stem cell transplantation options offer cure.
Beta-thalassaemia is an inherited microcytic anaemia caused by mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis. The genotypic spectrum includes homozygous and heterozygous defects, which result in a phenotypic spectrum ranging from transfusion dependence to the asymptomatic carrier state. Compound heterozygosity of beta-thalassaemia with haemoglobin E mutations results in a phenotype more severe than either beta-thalassaemia trait or haemoglobin E mutations alone, similar to beta-thalassaemia major or intermedia.
History and exam
Professor of Clinical Pediatrics
Weill-Cornell Medical College
SS is a consultant for Novartis Pharmaceuticals, makers of Desferal (deferoxamine), Exjade (deferasirox) and Jadenu (deferasirox); for Apopharma, maker of Ferriprox (deferiprone); and for Celgene, which is conducting trials with Luspatercept. SS is also an author of references cited in this monograph.
Associate Professor of Medicine
Innsbruck Medical University
CP declares that he has no competing interests.
Pediatric Hematology & Oncology
Stanford University School of Medicine
MRJ declares that he has no competing interests.
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