A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child. (3rd September 2019) - Gürlek-Gökçebay, Dilek
Abstract: We report a de novo heterozygous variant of the β-globin chain that showing a mild β-thalassemia intermedia (β-TI) phenotype. He presented with mild anemia, splenomegaly, reticulocytosis, and poikilocytosis and tear drop cells on the blood smear; Immune mediated hemolysis, red cell membrane and enzyme defects, were excluded; hemoglobin (Hb) electrophoresis showed an elevation of Hb F. Molecular analysis of the β-globin gene showed a heterozygous variation in exon 3 ( HBB : c.379delG, p.Val127Cysfs*32) in the absence of an α-globin gene mutation or mutations that modulate Hb F expression.