title: Guidelines for diagnosis and management of Beta-thalassemia intermedia.
abstract: Beta-thalassemia intermedia (β-TI) is a genetic variant of beta-thalassemias with a clinical disorder whose severity falls between thalassemia minor and thalassemia major. Different genetic defects are involved in this disorder and, based on severity of disease, clinical complications like skeletal deformities and growth retardation, splenomegaly, extramedullary hematopoiesis, heart failure, and endocrine disorders may be present in untreated patients. Precise diagnosis and management are essential in these patients for prevention of later clinical complications. Diagnosis of TI is based on clinical and laboratory data. There are some treatment strategies like modulation of gamma-globulin chain production with hydroxyurea or other drugs, transfusion, splenectomy, and stem cell transplantation. Iron chelation therapy is also needed in many of these patients even if they are not transfused. The aim of this manuscript is to review the clinical manifestations, complications, genetic defects, and unmet treatments needs in TI.
authors.affiliation: 1Hematology Research Center, Shiraz University of Medical Sciences , Shiraz , Iran.
authors.forename: Mehran
authors.initials: M
authors.lastname: Karimi
authors.forename: Nader
authors.initials: N
authors.lastname: Cohan
authors.forename: Vincenzo
authors.initials: V
authors.lastname: De Sanctis
authors.forename: Naji S
authors.initials: NS
authors.lastname: Mallat
authors.forename: Ali
authors.initials: A
authors.lastname: Taher
mesh_terms: D001803:Blood Transfusion; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use; D007871:Leg Ulcer / Q000209:etiology; D017410:Practice Guidelines as Topic; D011788:Quality of Life; D017086:beta-Thalassemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D005719:gamma-Globulins / Q000096:biosynthesis
chemical_list: D007502:Iron Chelating Agents; D005719:gamma-Globulins
keywords: beta-thalassemia intermedia; clinical complications; diagnosis; management