Thalassaemia
- PMID: 35691301
- DOI: 10.1016/S0140-6736(22)00536-0
Thalassaemia
Abstract
Thalassaemia is a diverse group of genetic disorders with a worldwide distribution affecting globin chain synthesis. The pathogenesis of thalassaemia lies in the unbalanced globin chain production, leading to ineffective erythropoiesis, increased haemolysis, and deranged iron homoeostasis. The clinical phenotype shows heterogeneity, ranging from close to normal without complications to severe requiring lifelong transfusion support. Conservative treatment with transfusion and iron chelation has transformed the natural history of thalassaemia major into a chronic disease with a prolonged life expectancy, albeit with co-morbidities and substantial disease burden. Curative therapy with allogeneic haematopoietic stem cell transplantation is advocated for suitable patients. The understanding of the pathogenesis of the disease is guiding therapeutic advances. Novel agents have shown efficacy in improving anaemia and transfusion burden, and initial results from gene therapy approaches are promising. Despite scientific developments, worldwide inequality in the access of health resources is a major concern, because most patients live in underserved areas.
Copyright © 2022 Elsevier Ltd. All rights reserved.
Conflict of interest statement
Declaration of interests AK reports consultation fees from Agios Pharmaceuticals, Amgen, Ionis Pharmaceuticals, and Vifor; consultation fees, research funding, honoraria, and travel support from Bristol Myers Squibb; honoraria from Chiesi; consultancy and honoraria from Crispr Therpeutics and Vertex Pharmaceuticals; and consultation fees, honoraria, and research funding from Novartis, outside of the submitted work. YA reports research funding and consultation fees from Bristol Myers Squibb; research funding and honoraria from Cerus and Novartis; consultation fees from CRISPR Therapeutics and SLN Therapeutics; and research funding from Imara, Ionis Pharmaceuticals, LaJolla, Protagonist, and Resonance Health, outside of the submitted work. JLK reports consultation fees from Agios Pharmaceuticals, Bristol Myers Squibb, and Silence Therapeutics; research funding from Bioverativ, Crispr Therpeutics and Vertex Pharmaceuticals, Editas, Sangamo, and Terumo BCT; and consultation fees and research funding from bluebird bio, Imara, Chiesi, and Forma Therapeutics, outside of the submitted work. JLK also acknowledges grant funding from the National Institutes of Health.
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