Identification of a novel δ-globin gene mutation in an Iranian family

Hemoglobin. 2010;34(6):594-8. doi: 10.3109/03630269.2010.528323.

Abstract

δ-Thalassemia (δ-thal) has no clinical symptoms, but its coinheritance with β-thal may cause misdiagnosis, especially in countries with a high prevalence of β-thal where prevention programs have been implemented. The molecular basis of most β-thal syndromes have been defined, while the spectrum of mutations causing δ-thal have not been well characterized. A couple was referred to us for thalassemia molecular screening. Since she had rather low values of Hb A₂ and normal Hb F, her δ-globin gene was amplified and directly sequenced. We found two different mutations on her δ-globin genes: HBD: c.92+5G>T/HBD:c.428C>A. The c.92+5G>T mutation has not been previously reported. Two different mutations in trans may explain the reduced Hb A₂ level.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Hemoglobin A2 / metabolism
  • Heterozygote
  • Humans
  • Iran
  • Male
  • Mutation*
  • beta-Thalassemia / blood
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics
  • delta-Globins / genetics*
  • delta-Thalassemia / blood
  • delta-Thalassemia / diagnosis
  • delta-Thalassemia / genetics

Substances

  • delta-Globins
  • Hemoglobin A2