T) with increased hemoglobin A(2)">

"Silent" beta-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A(2)


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ASLAN D.

TURKISH JOURNAL OF PEDIATRICS, vol.58, no.3, pp.305-308, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58 Issue: 3
  • Publication Date: 2016
  • Doi Number: 10.24953/turkjped.2016.03.013
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.305-308
  • Keywords: beta-thalassemia mutation (promoter nt-101 C > T), increased hemoglobin A2, Turkish family, GLOBIN GENE, SUBSTITUTION, INTERMEDIA

Abstract

One of the most common silent beta-thalassemia mutations is the C > T substitution at position - 101 within the distal CACCC box, which leads to a mild reduction in the expression level of the beta-globin gene. Carriers of this mutation have a normal hematologic picture without microcytosis and borderline hemoglobin A2 values, and may be missed during screening. Co-occurrence of this mutation with one of the classical beta-thalassemia mutations leads to beta-thalassemia intermedia, and this is important for Mediterranean populations where beta-thalassemia is frequent. Awareness of this mutation, which may have a heterogeneous clinical presentation, is required. We herein present the unusual hematologic findings of a Turkish family carrying this mutation.