title: Iron overload and iron-chelating therapy in hemoglobin E-beta thalassemia.
abstract: Whereas hemoglobin (Hb) E-beta thalassemia is recognized as probably the most common serious hemoglobinopathy worldwide, its natural history remains poorly defined. The interaction of hemoglobin E and beta-thalassemia result in a wide spectrum of clinical disorders, some indistinguishable from thalassemia major and some milder and not transfusion-dependent. Partially as a result of this wide range of phenotypes, clear guidelines for approaches to transfusion and to iron-chelating therapy for patients with Hb E-beta thalassemia have not been developed. By contrast, data that have accumulated during the past 10 years in patients with beta-thalassemia permit a quantitative approach to the management of iron overload and provide guidelines for the control of body iron burden in individual patients treated with iron-chelating therapy. These guidelines may be applicable to patients with Hb E-beta thalassemia. Preliminary evidence from our studies of iron loading in affected patients with Hb E-beta thalassemia in Sri Lanka suggest that this disorder may be associated with variable, but accelerated, gastrointestinal iron absorption, and that the iron loading associated with chronic transfusions in patients with Hb E-beta thalassemia is similar to that observed in patients with beta-thalassemia. These data, in the only cohort of patients with Hb E-beta thalassemia to have undergone quantitative assessment of body iron burden, suggest that the principles that guide assessment of iron loading and initiation of chelating therapy in patients with beta-thalassemia may be generally applicable to those with Hb E-beta thalassemia. Further quantitative studies in both nontransfused and transfused patients will be necessary to permit firm conclusions.
authors.affiliation: Department of Medicine, University of Toronto, Canada. noliv@sickkids.on.ca
authors.forename: N F
authors.initials: NF
authors.lastname: Olivieri
authors.forename: S
authors.initials: S
authors.lastname: De Silva
authors.forename: A
authors.initials: A
authors.lastname: Premawardena
authors.forename: S
authors.initials: S
authors.lastname: Sharma
authors.forename: A M
authors.initials: AM
authors.lastname: Viens
authors.forename: C M
authors.initials: CM
authors.lastname: Taylor
authors.forename: G M
authors.initials: GM
authors.lastname: Brittenham
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D000328:Adult; D001803:Blood Transfusion; D006446:Hemoglobin E / Q000032:analysis; D006801:Humans; D007501:Iron / Q000378:metabolism; D007502:Iron Chelating Agents / Q000627:therapeutic use*; D019190:Iron Overload / Q000188:drug therapy* / Q000209:etiology*; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D017410:Practice Guidelines as Topic; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications / Q000628:therapy*
chemical_list: D007502:Iron Chelating Agents; D006446:Hemoglobin E; D007501:Iron