Αlpha-thalassemia: A practical overview.

Vip Viprakasit, Thomas D Coates, Kevin H M Kuo, Sujit Sheth, Khaled M Musallam, Hanny Al-Samkari, M Domenica Cappellini, Ali T Taher

Journal: Blood reviews 2024;64():101165

PMID: 38182489

Free Full Text on Elsevier Science View on PubMed

Abstract

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.

Address: Center for Research on Rare Blood Disorders (CR-RBD), Burjeel Medical City, Abu Dhabi, United Arab Emirates.; Department of Clinical Sciences and Community, University of Milan, Ca' Granda Foundation IRCCS Maggiore Policlinico Hospital, Milan, Italy.; Hematology Section, Cancer and Blood Disease Institute, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.; Division of Hematology, Department of Medicine, University of Toronto, Toronto, ON, Canada.; Center for Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA.; Department of Pediatrics & Thalassemia Center, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon. Electronic address: [email protected].

DOI: 10.1016/j.blre.2023.101165

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MeSH Terms: Humans, beta-Thalassemia, alpha-Thalassemia, Erythropoiesis, Hematologic Diseases, Erythrocyte Transfusion, Iron Overload