The Extent of Beta-Thalassemia Mutations in Couples Referred for Chorionic Villus Sampling: A Collaborative Single Center Cross-Sectional Study

Abstract

Background: Beta Thalassemia is the most pervasive single gene disorder of hemoglobin. As thalassemia is a preventable disease, its prevention must be our priority. Prenatal diagnosis in the form of chorionic villous sampling is a very important tool for its prevention. Objective: The purpose of our study is to ascertain the results of chorionic villous sampling performed for prenatal diagnosis of couples at a risk of having thalassemia major child and to scrutinize the extent of beta thalassemia mutations in accordance with region and ethnicity. Study Design: Retrospective cross-sectional study. Settings: Patients referred at regional Centre of Punjab thalassemia prevention program (PTPP) of Sahiwal Teaching Hospital. Duration: From October, 2020 to August, 2022. Methods: After taking informed consent, chorionic villous sampling (CVS) was done of 75 women at gestational age of 11-15 weeks, referred to regional center of Punjab thalassemia prevention program of Sahiwal Teaching Hospital. Following Sops of sample taking and transportation, genetic analysis of sample was done at PTPP, Lahore. Results: The results of CVS in our study showed that 21.4% turned out to be unremarkable (no mutation detected). 58.6 % were found to have thalassemia trait/carrier while 20.0% were positive for mutation of thalassemia major. The most common mutation in our study detected in thalassemia major fetuses was Fr 8-9 (+G) followed by IVS I-5 (G-C) and Cd 30 (G-C). Although region wise distribution of mutations remained statically non-significant in our study. Conclusion: We concluded that certains mutations of thalassemia major are common in region that must be included in screening panel.