The Spectrum of Beta-thalassemia Mutations in Couples Referred for Chorionic Villus Sampling at Bahawal Victoria Hospital, Bahawalpur

Introduction The prevalence of beta-thalassemia mutations is different in various castes, regions, and ethnic groups. By knowing this prevalence, we can conduct a targeted screening of only the high-risk population and only for the specific mutations that are prevalent in each group. Objective The purpose of this study was to determine the regional, caste-wise, and ethnic spectrum of beta-thalassemia mutations in couples referred for a prenatal diagnosis. Methods A cross-sectional analytical study was conducted at the thalassemia unit, Bahawal Victoria Hospital, Bahawalpur, from October 1, 2015, to May 15, 2018. After obtaining informed consent, chorionic villus sampling (CVS) was performed in 144 women having a gestational age of 12 to 16 weeks. We took blood samples of the couples. A chromosomal analysis for 13 mutations was done at Punjab Thalassaemia Prevention Programme (PTPP), Lahore. The researchers filled a questionnaire with all the details of couples like ethnicity, caste, and region. Results The most common mutation was Fr 8-9(+G), accounting for 29.8%, followed by IVS 1-5(G-C), which was 28.9%. We did not find three mutations in any chromosome. Fr 8-9 (+G) was the most common mutation among Punjabis and Pakhtoons. IVS 1-5 (G-C) was the most common mutation among Saraikis and Urdu-speaking people. In Rajputs, Arains, Jatts, and Pathans, Fr 8-9 (+G) was the most common mutation. IVS 1-5 (G-C) was the most common mutation among Sheikhs, Balochs, Syeds, and Miscellaneous. IVS 1-5 (G-C) was the most common mutation in the Bahawalpur division and Ghotki (Sindh) while Fr 8-9 (+G) was the most common mutation in the Multan division. The p-value of all the results was <0.001. Conclusion There is an ethnic, caste-wise, and regional distribution of mutations. We can conduct a targeted screening of the population and provide counseling about chorionic villus sampling by using this local data.