title: Clinical and hematological response to hydroxyurea in a patient with Hb Lepore/beta-thalassemia.
abstract: The possibility of increasing Hb F in vivo using drugs like 5-azacytidine, hydroxyurea, and butyrate has been established. However, in many cases this does not entail an increase in total hemoglobin. We report on a patient with Hb Lepore/beta-thalassemia being treated with hydroxyurea (30 mg/Kg/day) because of the presence of erythroid extramedullary masses with severe neurological abnormalities. During therapy the patient showed a remarkable improvement in neurological signs due to the reduction in extra-medullary masses, a significant increase in both total hemoglobin (from 5.8 to 9.7 g/dl) and Hb F (from 4.9 g/dl to 9.1 g/dl). The marked improvement in hemoglobin level in our patient with Hb Lepore/beta-thalassemia suggests gamma-globin gene activation due to the DNA structure determined by the crossover event.
authors.affiliation: Thalassemia Centre, Ospedale V. Cervello, Palermo, Italia.
authors.forename: P
authors.initials: P
authors.lastname: Rigano
authors.forename: L
authors.initials: L
authors.lastname: Manfré
authors.forename: R
authors.initials: R
authors.lastname: La Galla
authors.forename: D
authors.initials: D
authors.lastname: Renda
authors.forename: M C
authors.initials: MC
authors.lastname: Renda
authors.forename: A
authors.initials: A
authors.lastname: Calabrese
authors.forename: R
authors.initials: R
authors.lastname: Calzolari
authors.forename: A
authors.initials: A
authors.lastname: Maggio
mesh_terms: D000328:Adult; D002851:Chromatography, High Pressure Liquid; D004591:Electrophoresis, Polyacrylamide Gel; D004911:Erythrocyte Volume / Q000187:drug effects; D005260:Female; D005319:Fetal Hemoglobin / Q000096:biosynthesis / Q000737:chemistry; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000187:drug effects / Q000502:physiology; D006801:Humans; D006918:Hydroxyurea / Q000494:pharmacology* / Q000627:therapeutic use; D010976:Platelet Count; D011110:Polymorphism, Genetic; D017701:Reticulocyte Count; D017086:beta-Thalassemia / Q000097:blood* / Q000188:drug therapy
chemical_list: D006455:Hemoglobins, Abnormal; D005319:Fetal Hemoglobin; C037659:hemoglobin Lepore; D006918:Hydroxyurea