Αlpha-thalassemia: A practical overview.

α-Thalassemia is an inherited blood disorder characterized by decreased synthesis of α-globin chains that results in an imbalance of α and β globin and thus varying degrees of ineffective erythropoiesis, decreased red blood cell (RBC) survival, chronic hemolytic anemia, and subsequent comorbidities. Clinical presentation varies depending on the genotype, ranging from a silent or mild carrier state to severe, transfusion-dependent or lethal disease. Management of patients with α-thalassemia is primarily supportive, addressing either symptoms (eg, RBC transfusions for anemia), complications of the disease, or its transfusion-dependence (eg, chelation therapy for iron overload). Several novel therapies are also in development, including curative gene manipulation techniques and disease modifying agents that target ineffective erythropoiesis and chronic hemolytic anemia. This review of α-thalassemia and its various manifestations provides practical information for clinicians who practice beyond those regions where it is found with high frequency.

Informations de copyright

Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest K.M.M. reports consultancy fees from Novartis, Celgene Corp (Bristol Myers Squibb), Agios Pharmaceuticals, CRISPR Therapeutics, Vifor Pharma, and Pharmacosmos; and research funding from Agios Pharmaceuticals and Pharmacosmos. M.D.C. reports consultancy fees from Novartis, Celgene/Bristol Myers Squibb, Vifor Pharma, and Ionis Pharmaceuticals; and research funding from Novartis, Celgene/Bristol Myers Squibb, La Jolla Pharmaceutical Company, Roche, Protagonist Therapeutics, and CRISPR Therapeutics. T.D.C. provides advisory support to Agios Pharma, Bristol Meyers Squibb, and Chiesi. K.H.M.K. reports consultancy fees from Agios Pharmaceuticals, Alexion Pharmaceuticals, Bristol Myers Squibb, Forma Therapeutics, Pfizer, NovoNordisk, and Vertex Pharmaceuticals; honoraria from Agios Pharmaceuticals and Bristol Myers Squibb; membership on an advisory committee for Bioverativ/Sanofi/Sangamo; and research funding from Agios Pharmaceuticals and Pfizer. H.A-S. reports consultancy fees from Novartis, Forma Therapeutics, Agios Pharmaceuticals, argenx, Moderna, Pharmacosmos, and Sobi; and research funding from Agios Pharmaceuticals, Amgen, Sobi, Novartis, and Vaderis Therapeutics. S.S. reports consultancy fees from Agios Pharmaceuticals, bluebird bio, Fulcrum Therapeutics, Chiesi, Celgene Corp (Bristol Myers Squibb), and Vertex; honoraria for CME activities from Plexus, CCO, and Physicians' Education Resource; advisory board travel from Agios Pharmaceuticals, Celgene Corp (Bristol Myers Squibb), and bluebird bio; research funding from Celgene Corp (Bristol Myers Squibb), Agios Pharmaceuticals, and Forma Therapeutics; and serving on a clinical trial steering committee for CRISPR/Vertex CTX001 for thalassemia. V.V. reports consultancy fees from Celgene Corp (Bristol Myers Squibb), Agios Pharmaceuticals, Novartis, Vifor Pharma, Pharmacosmos, IONIS Pharmaceuticals, Inc., and DisperSol Technologies, LLC; and research funding from Celgene Corp (Bristol Myers Squibb), Agios Pharmaceuticals, Novartis, Vifor Pharma, Pharmacosmos, IONIS Pharmaceuticals, Inc., DisperSol Technologies, LLC, and The Government Pharmaceutical Organization (GPO). A.T.T. reports consultancy fees from Novartis, Celgene Corp (Bristol Myers Squibb), Agios Pharmaceuticals, Vifor Pharma, and Pharmacosmos; and research funding from Novartis, Celgene Corp (Bristol Myers Squibb), Agios Pharmaceuticals, Vifor Pharma, and Pharmacosmos.