Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey

Turk J Med Sci. 2017 Jun 12;47(3):973-978. doi: 10.3906/sag-1606-49.

Abstract

Background/aim: IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these mutations using the TaqMan probe method.

Materials and methods: This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, and 21 controls with known mutations.

Results: We designed a kit containing the IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS mutations by using the real-time PCR method. One hundred patients were studied with our developed TaqMan real-time PCR kit. Of these patients, 73 (73%) were identified with the beta gene mutation. Among those 73 patients, 16 were homozygous, 54 were heterozygous, and 3 were compound heterozygous.

Conclusion: This reliable kit provided rapid diagnosis including 76% of the β-thalassemia mutations in Turkey.

Keywords: Beta-thalassemia; HbS; mutation; β-thalassemia screening kit.

MeSH terms

  • DNA Mutational Analysis / methods
  • Hemoglobin, Sickle / genetics*
  • Humans
  • Mutation / genetics*
  • Real-Time Polymerase Chain Reaction / methods*
  • Reproducibility of Results
  • Turkey
  • beta-Thalassemia* / diagnosis
  • beta-Thalassemia* / genetics

Substances

  • Hemoglobin, Sickle