Frequencies of Hemoglobinopathies in Pakistan: A Single Center Study

Abstract

Objectives: This study aimed to determine the frequencies of different hemoglobinopathies to assess the disease burden in our population.

Methodology: We conducted a descriptive cross-sectional study at The CITI Lab in Rawalpindi from August 2021 to November 2024. After obtaining clinical and family histories, we evaluated 5,961 patients. Laboratory analysis included complete blood count using a Beckman Coulter UniCel DxH 800 analyzer, red blood cell morphology examination through Giemsa-stained peripheral smears, and hemoglobin electrophoresis performed on a Sebia Capillarys 2 Flex Piercing system.

Results: Among 5,961 cases analyzed, 5,254 (88.14%) showed normal results while 707 (11.86%) demonstrated hemoglobinopathies. The most frequent abnormality was beta thalassemia trait (9.5%), followed by Hb D trait (1.39%), thalassemia major (0.64%), thalassemia intermedia (0.07%), sickle cell trait (0.07%), Hb E trait (0.07%), Hb D/beta thalassemia (0.05%), fast-moving hemoglobin variants (0.05%), sickle cell disease (0.02%), and Hb E/beta thalassemia (0.02%).

Conclusion: The high prevalence of hemoglobinopathies in Pakistan appears strongly associated with consanguineous marriages, limited health literacy, socioeconomic challenges, and inadequate access to healthcare services. We recommend implementing comprehensive public health strategies including population education initiatives, expanded screening programs particularly in high-prevalence regions, and enhanced genetic counseling services to mitigate this growing health burden.