title: Thalassemia in Italy: treatment of Cooley disease and iron kinetics in heterozygotes.
abstract: Because of its high prevalence in Italy, thalassemia is officially considered a disease of major social importance. Several centers have been established for the specific purpose of population screening and treatment of patients with Cooley disease. Survival, in some cases up to 20 years, has been reached by the therapeutic methods adopted, consisting mainly of an intensive transfusion program combined with splenectomy. We now face serious logistic, social, and financial problems, raised by the increasing number of patients living, estimated at around 12,000. The iron overload is not adequately controlled by the routine use of desferrioxamine. Studies of iron kinetics in heterozygotes demonstrate  specific alteration of iron metabolism (not related to the exogenous transfusion-induced overload). Therefore, treatment with iron-chelating agents might be indicated in at least some of these subjects.
mesh_terms: D000293:Adolescent; D000328:Adult; D001803:Blood Transfusion; D001853:Bone Marrow / Q000378:metabolism; D002614:Chelating Agents / Q000627:therapeutic use; D002857:Chromium / Q000097:blood; D006579:Heterozygote; D006801:Humans; D007501:Iron / Q000378:metabolism*; D007558:Italy; D007700:Kinetics; D008099:Liver / Q000378:metabolism; D013154:Spleen / Q000378:metabolism; D013156:Splenectomy; D013789:Thalassemia / Q000378:metabolism / Q000628:therapy
chemical_list: D002614:Chelating Agents; D002857:Chromium; D007501:Iron