A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child


Gürlek-Gökçebay D., Akpinar-Tekgunduz S., Erdem H. B. , Yarali N.

Hemoglobin, vol.43, no.4-5, pp.277-279, 2019 (Journal Indexed in SCI Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 4-5
  • Publication Date: 2019
  • Doi Number: 10.1080/03630269.2019.1660888
  • Title of Journal : Hemoglobin
  • Page Numbers: pp.277-279
  • Keywords: exon 3 variation, HBB: c.379delG, p.Val127Cysfs*32, β-Thalassemia intermedia (β-TI)

Abstract

© 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group.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.