BETA-THALASSEMIA CARRIER FREQUENCY AND HAEMATOLOGICAL PROFILES AMONG INDIVIDUALS SCREENED IN NAROWAL, PUNJAB, PAKISTAN: A RETROSPECTIVE STUDY
Abstract
Beta-thalassemia is a major inherited blood disorder that poses a significant global health burden, particularly in regions with high rates of consanguineous marriage such as Pakistan, where information on carrier frequency in rural communities remains limited. A retrospective analysis was conducted using 565 laboratory records from the thalassemia prevention programme at DHQ Hospital, Narowal, Punjab, Pakistan, covering January 2020 to November 2024. The study aimed to describe the frequency of β-thalassemia carriers and their haematological characteristics among individuals screened. Among these screened individuals, 122 (21.59%) were classified as carriers and 2 (0.35%) as having thalassemia major; these figures should not be interpreted as district-wide population prevalence because the sample comprised screening attendees. Carriers had lower MCV (64.97 vs. 81.92 fL) and MCH (18.76 vs. 26.04 pg), and higher HbA2 (5.32% vs. 2.57%) than non-carriers. Among the 85 advice entries summarized, family screening and genetic counselling and serum ferritin testing each accounted for 27 (31.76%), while haematinic supplementation accounted for 13 (15.29%). The findings support strengthening accessible screening, standardized CBC and haemoglobin-analysis protocols, genetic counselling, and community awareness. Future studies should include representative samples from surrounding districts to assess regional variation and the effectiveness of interventions.
Keywords
- Thalassemia, Carrier frequency, Haematological profiles, Narowal
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