rs33978907

This chapter describes a real-time PCR method using the LightCycler system with hybridization probes for rapid detection of β-thalassemia and sickle cell syndrome mutations in prenatal diagnosis. The approach uses multiple probe sets designed to detect the most common mutations in the HBB gene across diverse populations worldwide, enabling high-throughput genotyping of parental and fetal DNA samples.

A molecular characterization study of beta thalassemia mutations in 387 heterozygous carriers from Chennai, India, identified 30 different HBB mutations with IVS 1-5 (G-C) being the most prevalent (70.8%, rs33915217). Five rare mutations were reported for the first time in India (IVS II-1 G>T, CD 37 TGG-TGA, IVS II 781 C-G, CD114 CTG-CCG, Poly A A-G), and one novel mutation (HBB.c319DelC) was detected, supporting the development of prenatal diagnostic approaches for beta thalassemia.