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)

• Record Type: Journal Article
• Authors: Gürlek-Gökçebay, Dilek; Akpinar-Tekgunduz, Sibel; Erdem, Haktan B.; Yarali, Nese
• Is Part Of: Hemoglobin. Volume 43:Number 4/5(2019)
• Page Start: 277
• Page End: 279
• Publication Date: 2019-09-03
• Subjects: β-Thalassemia intermedia (β-TI) -- exon 3 variation -- HBB: c.379delG -- p.Val127Cysfs*32; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2019.1660888
• Languages: English
• ISSNs: 0363-0269

Abstract

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.