title: Thalassemia: the continued challenge.
abstract: 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.
authors.affiliation: Dana-Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA. David_Nathan@dfci.harvard.edu
authors.forename: David G
authors.initials: DG
authors.lastname: Nathan
mesh_terms: D000284:Administration, Oral; D000328:Adult; D000368:Aged; D000818:Animals; D001900:Boston; D019090:Case Management / Q000639:trends; D015913:Chelation Therapy; D002648:Child; D002675:Child, Preschool; D005060:Europe; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005319:Fetal Hemoglobin / Q000096:biosynthesis / Q000235:genetics; D015316:Genetic Therapy; D006333:Heart Failure / Q000209:etiology / Q000517:prevention & control; D018380:Hematopoietic Stem Cell Transplantation; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015918:Infusion Pumps, Implantable; D007502:Iron Chelating Agents / Q000008:administration & dosage / Q000493:pharmacokinetics / Q000627:therapeutic use; D019190:Iron Overload / Q000209:etiology / Q000517:prevention & control; D008252:Macaca fascicularis; D008297:Male; D051379:Mice; D008875:Middle Aged; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D011296:Prenatal Diagnosis / Q000941:ethics; D013789:Thalassemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000266:history* / Q000517:prevention & control / Q000628:therapy; D065227:Transfusion Reaction
chemical_list: D007502:Iron Chelating Agents; D005319:Fetal Hemoglobin