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.
Beta-thalassemia, HbS, β-thalassemia screening kit, mutation
KARAER, DERYA KAN; ERGÜN, MEHMET ALİ; RUHİ, HATİCE ILGIN; ÖZTÜRK, JALE; KARA, HALİL; ÇAKMAK, DENİZ REİSOĞLU; AYDOĞMUŞ, TALİHANUR; and PERÇİN, FERDA EMRİYE
"Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey,"
Turkish Journal of Medical Sciences: Vol. 47:
3, Article 39.
Available at: https://journals.tubitak.gov.tr/medical/vol47/iss3/39