BETA-THALASSEMIA MUTATIONS IN PUNJAB, PAKISTAN (2016- 2022), HIGHLIGHTING RARE VARIANTS DURING COVID-19 (2019- 2020)
DOI:
https://doi.org/10.70905/bmcj.07.01.0640Keywords:
Chorionic villus sampling, beta-thalassemia, spectrum of mutations, prenatal diagnosis, COVID-19Abstract
Background: Beta-thalassemia is one of the most common inherited hemoglobin disorders in Pakistan, with a heterogeneous mutation spectrum that varies across different geographic regions, making region-specific mutation data essential for accurate prenatal diagnosis and genetic counseling.
Objective: This study evaluated the frequency, regional diversity, and rare beta-thalassemia mutations in Punjab, Pakistan, during 2016–2022, emphasizing implications for prenatal diagnosis, genetic counseling, and possible COVID-19-related temporal variations.
Material and Methods: A retrospective study was performed from 2016–2022 at Nishtar Hospital Multan. Chorionic villus samples from 1000 pregnant women with gestational ages of 12–14 weeks undergoing prenatal diagnosis for beta-thalassemia were collected along with parental blood samples. Samples were analyzed at the Punjab Thalassemia and Other Genetic Disorders Prevention and Research Institute, Lahore, for 17 beta-thalassemia mutations using PCR-based molecular techniques. Genomic DNA extraction and beta-globin gene amplification were performed. Descriptive statistics and chi-square analysis were applied to compare mutation frequencies across years and demographic groups.
Results: IVS 1-5 (G-C) was the most prevalent mutation (39.06%), followed by Fr 8-9 (+G) (30.94%) and Cd-15 (G-A) (6.6%). Rare mutations included IVS1-1 (G-T) (2.8%), Exon mutation (1.1%), and Cap+1 (A-C) (0.8%). Rare variants including HbS, HbD, Cd-16, and Exon mutations appeared intermittently during 2016–2020. Exon mutation frequency increased during late 2019–2020, coinciding temporally with the COVID-19 pandemic period; however, no causal association could be established. Mutations were most common in women aged 25–29 years and gravida three or more.
Conclusion: The study revealed significant regional variation in common and rare beta-thalassemia mutations in South Punjab, supporting improved prenatal diagnosis, targeted mutation screening, and genetic counseling, while further multicenter studies are needed to explore possible COVID-19-related associations.
