title: β-Thalassemia Intermedia Associated with Heterozygous and Isolate β-Globin Gene Mutation [IVS-II-1 (HBB: c.315G>A)].
abstract: A 4-year-old male child of Caucasian ethnicity was investigated for moderate hemolytic and non immune-mediated anemia. The presence of splenomegaly and the elevation of Hb A(2) and Hb F and the exclusion of a defect of protein of red blood cell (RBC) membranes defined a clinical picture of β-thalassemia intermedia (β-TI). The molecular analysis showed a heterozygous IVS-II-1 (HBB: c.315G > A) mutation on the β-globin gene, in the absence of extra α-globin genes or unstable hemoglobin (Hb) chains.
authors.affiliation: a Department of Pediatrics , Azienda Ospedaliera di Melegnano , Milan , Italy.
authors.forename: Dimitri
authors.initials: D
authors.lastname: Poddighe
authors.forename: Layla
authors.initials: L
authors.lastname: Roncoroni
authors.forename: Elena V
authors.initials: EV
authors.lastname: Comi
authors.forename: Paola
authors.initials: P
authors.lastname: Bruni
mesh_terms: D002675:Child, Preschool; D004909:Erythrocyte Indices; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010641:Phenotype; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D055544:beta-Globins
keywords: Anemia; genotype-phenotype; hemolysis; relationship; splenomegaly; β-thalassemia intermedia (β-TI)