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

Abstract

IntroductionThe 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.ObjectiveThe 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.MethodsA 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.ResultsThe 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.ConclusionThere 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.

Beta Thalassemia Mutation Analysis in Fetal Samples for Optimal Mutation Screening Strategy

“…There was no significant difference between the results of our study and this study. 16 The study conducted by Kanwal et al in 2017 showed that IVS1-5, Fr8-9 and Fr41-42 were the prevailing mutations and uncommon mutations were Del 619, IVS1-1, Cd15 and Cd16. There was some difference in the results of our study and this study.…”

“…Other less common mutations were Fr 41-42, Fr 16, IVS1-1 and Cap+1. A study by Zafar et al 2018 showed that the most common mutations were Fr 8-9, IVS 1-5, Cd5, Fr41-42 and Del 619. There was no significant difference between the results of our study and this study.…”

Anemia among Medical Students from Jakarta: Indonesia—Iron Deficiency or Carrier Thalassemia?

“…Tis is typically confrmed through additional testing, such as hemoglobin electrophoresis or genetic testing, to defnitively diagnose beta-thalassemia trait. It is important to note that interpretation of HbA 2 levels should be done in conjunction with clinical fndings and other laboratory tests for a comprehensive diagnosis [23][24][25][26].…”