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.
Keywords: Anemia; genotype-phenotype; hemolysis; relationship; splenomegaly; β-thalassemia intermedia (β-TI).