Turkish Journal of Medical Sciences
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.
DOI
10.3906/sag-1606-49
Keywords
Beta-thalassemia, HbS, β-thalassemia screening kit, mutation
First Page
973
Last Page
978
Recommended Citation
KARAER, D. K, ERGÜN, M. A, RUHİ, H. I, ÖZTÜRK, J, KARA, H, ÇAKMAK, D. R, AYDOĞMUŞ, T, & PERÇİN, F. E (2017). Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey. Turkish Journal of Medical Sciences 47 (3): 973-978. https://doi.org/10.3906/sag-1606-49
