Public Awareness, Genetic Counseling, And Uptake of Thalassemia Carrier Screening: A Multicenter Study in Pakistan

Abstract

Background: Thalassemia prevention in Pakistan depended on public understanding, accessible genetic counseling, and timely carrier screening. However, awareness of the disease did not necessarily translate into testing.

Objective: To assess awareness, changes following counseling, screening completion, and barriers among adults attending the hospital-linked services in Punjab.

Methods: A multicenter prospective before-and-after study included 360 adults aged 18–45 years between January and December 2025. Participants completed a ten-item knowledge assessment before and immediately after structured counseling. Free carrier screening was offered, and completion was verified within 30 days. Paired comparisons and Wilson confidence intervals were calculated.

Results: The mean knowledge score increased from 3.73 ± 1.48 to 7.73 ± 1.33, with a mean improvement of 4.00 points (95% confidence interval: 3.83–4.17; p<0.001). Willingness to undergo screening increased from 47.5% to 83.9%. Screening was completed by 252 participants (70.0%; 95% confidence interval: 65.1–74.5%). Laboratory findings were consistent with beta-thalassemia trait in 21 screened participants (8.3%; 95% confidence interval: 5.5–12.4%). Among 108 participants without completed screening, travel or work commitments, perceived lack of need, and concerns about marriage prospects were the leading barriers.

Conclusion: Counseling was followed by improved knowledge and greater willingness to screen, although testing completion remained lower. Accessible sampling, confidential communication, and follow-up support emerged as priorities for strengthening prevention services. The findings informed service delivery rather than establishing a causal reduction in disease incidence.