An update on thalassemia intermedia
Maakaron, J.E.; Cappellini, M.Domenica.; Taher, A.T.
Le Journal Medical Libanais. Lebanese Medical Journal 61(3): 175-182
2013
ISSN/ISBN: 0023-9852 PMID: 24422369 Document Number: 671095
Thalassemia intermedia is a genetically diverse group of diseases that is the result of an imbalance in the production of the alpha and beta chains with ensuing chronic hemolysis, ineffective erythropoiesis, and iron overload. Resulting complications include bone changes, hypercoagulability, and end-organ damage due to iron overload. This decade has witnessed major breakthroughs in the management of thalassemia. In this article, we examine these novelties in therapy including iron chelation therapy, stem cell transplant, and gene therapy. Iron chelation therapy has been revolutionized with the advent of deferasirox, a once-daily oral iron chelator, that has been shown to be safe and efficacious. Gene therapy was also at the core of this revolution with the discovery of novel gene elements and viral vectors allowing for better control and improved outcomes.