β-Thalassemias

Defective synthesis of the β-globin chain causes recessively inherited disorders characterized by inadequate hemoglobin production and chronic anemia. Transfusion may lead to iron overload. Hematopoietic stem-cell transplantation may be curative. Gene therapy holds promise for reversing anemia.

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Bibliographische Detailangaben
Veröffentlicht in:	The New England journal of medicine 2021-02, Vol.384 (8), p.727-743
Hauptverfasser:	Taher, Ali T, Musallam, Khaled M, Cappellini, M. Domenica
Format:	Artikel
Sprache:	eng
Schlagworte:	Activin Receptors, Type II - therapeutic use Anemia Asymptomatic Autophagy beta-Thalassemia - complications beta-Thalassemia - diagnosis beta-Thalassemia - genetics beta-Thalassemia - therapy Epidemiology Erythrocyte Transfusion - adverse effects Gene expression Gene therapy Genetic counseling Genetic Therapy Genotype Genotype & phenotype Hematinics - therapeutic use Hematopoietic Stem Cell Transplantation Hemoglobin Hereditary diseases Humans Immunoglobulin Fc Fragments - therapeutic use Iron Overload - etiology Kinases Mutation Phenotype Proteins Recombinant Fusion Proteins - therapeutic use Stem cell transplantation
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Beschreibung
Zusammenfassung:	Defective synthesis of the β-globin chain causes recessively inherited disorders characterized by inadequate hemoglobin production and chronic anemia. Transfusion may lead to iron overload. Hematopoietic stem-cell transplantation may be curative. Gene therapy holds promise for reversing anemia.
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMra2021838