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 offers 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, resulting 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 Bristol Myers Squibb (formerly Celgene), manufacturer of luspatercept; for Bluebirdbio, developer of a gene therapy product for transfusion dependent beta-thalassaemia; and for Agios, related to mitapivat for thalassaemia. Steering committee member for CTX001, gene editing product by CRISPR/Vertex. Participation in multicentre trials conducted by LaJolla, Bristol Myers Squibb, Terumo, Novartis, Dispersol. SS is also an author of references cited in this topic.
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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