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, cilt.58, sa.3, ss.305-308, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 58 Konu: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.24953/turkjped.2016.03.013
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.305-308

Özet

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.