High prevalence and molecular spectrum of β-thalassemia trait in Haripur and Abbottabad districts of Pakistan: implications for regional carrier screening programs
Year: 2025
Type: article
Study design: Observational Study
Abstract: Background β-thalassemia is a common autosomal recessive blood disorder caused by mutations in the β-globin gene, with highly variable carrier frequencies across different regions. In Pakistan, cultural practices such as consanguineous marriages, combined with limited access to genetic screening, contribute to an increased prevalence of inherited disorders. However, reliable data on community-level prevalence and molecular mutation patterns remain scarce, particularly in rural or semi-urban districts. This study aimed to investigate the prevalence and mutational spectrum of β-thalassemia trait in Haripur and Abbottabad districts of northern Pakistan to better inform prevention strategies. Results Among 228 community participants, 28% (n = 64) were confirmed carriers (95% CI: 22–34%). ARMS-PCR screening of five common HBB mutations revealed that 59% (n = 38) carried IVS I-5 (G → C), 23% (n = 15) carried the FSC 8/9 (+ G) mutation, and 17% (n = 11) were compound heterozygotes for both, representing a noteworthy level of mutational complexity. No cases of IVS I-1 (G → T), Cd 41/42 (–TTCT), or the 619-bp deletion were detected. Carrier prevalence was significantly higher in Abbottabad than Haripur (42.9% vs. 13.2%; p <0.0001). Conclusion This high local carrier rate, well above Pakistan’s national estimate of 5–8%, and the presence of compound heterozygotes underscore a concentrated genetic burden and the need for region-specific screening, premarital counseling, and expansion of molecular diagnostic services.
Authors: Ehtisham ul Haq, Asma Naeem, Usman Ayub Awan, Sadiq Noor Khan, Muhammad Zohaib, Ghufran Uddin
Institution: University of Haripur
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
Award: G75216122
OpenAlex ID: W4415193554