RESUMO
This overview describes the history of transfusion therapy and consequent iron overload in thalassemia. It emphasizes the importance of measurement of hepatic iron and reviews the history of chelation therapy. It briefly describes the discoveries of the genetic basis of thalassemia and the application of that knowledge in prenatal diagnosis. The review goes on to emphasize pharmaceutical efforts to induce fetal hemoglobin synthesis in thalassemic red cells and ends with a discussion of oral iron chelators, stem cell transplant, and the status of gene therapy.
Assuntos
Talassemia/história , Administração Oral , Adulto , Idoso , Animais , Boston , Administração de Caso/tendências , Terapia por Quelação , Criança , Pré-Escolar , Europa (Continente) , Feminino , Doenças Fetais/diagnóstico , Hemoglobina Fetal/biossíntese , Hemoglobina Fetal/genética , Terapia Genética , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/prevenção & controle , Transplante de Células-Tronco Hematopoéticas , História do Século XX , História do Século XXI , Humanos , Lactente , Recém-Nascido , Bombas de Infusão Implantáveis , Quelantes de Ferro/administração & dosagem , Quelantes de Ferro/farmacocinética , Quelantes de Ferro/uso terapêutico , Sobrecarga de Ferro/etiologia , Sobrecarga de Ferro/prevenção & controle , Macaca fascicularis , Masculino , Camundongos , Pessoa de Meia-Idade , Gravidez , Complicações Hematológicas na Gravidez , Diagnóstico Pré-Natal/ética , Talassemia/diagnóstico , Talassemia/tratamento farmacológico , Talassemia/genética , Talassemia/prevenção & controle , Talassemia/terapia , Reação TransfusionalRESUMO
PURPOSE OF REVIEW: For three decades, deferoxamine has been the only approved iron chelator. This drug has an extremely short-half life and is not orally absorbed; thus, a search has been ongoing for alternative chelators with less onerous delivery. Recently, several oral iron chelators and variations of deferoxamine to prolong the half-life have been developed. These and the methods of monitoring iron overload are the subjects of this review. RECENT FINDINGS: New chelators, combinations of chelators and regimens for known chelators and their safety and efficacy are being studied in important preclinical and clinical trials. SUMMARY: The care and clinical outcomes of patients with thalassemia and other iron-overload disorders may be markedly improved by recent discoveries and novel approaches to chelation therapy.