Capillary electrophoresis-based screening for haemoglobinopathies in Sindh and Balochistan, Pakistan: A cross-sectional study.

Abstract

Objective: To assess the frequency and spectrum of haemoglobinopathies in Sindh and Balochistan using the Sebia Capillarys 3 Octa capillary electrophoresis system, and evaluate its diagnostic utility in routine clinical practice. Study Design: Descriptive Cross-sectional study. Setting: Department of Hematology, Chughtai Laboratory, Karachi, Pakistan. Period: June 2023 to June 2024. Methods: A total of 1,340 patients referred for hemoglobinopathy screening were included using consecutive non-probability sampling. Capillary electrophoresis (CE) was performed using the Sebia Capillarys 3 Octa system to detect hemoglobin variants and quantify HbA2. A cut-off value of HbA2 >3.5% was used to identify β-thalassemia trait. Complete blood counts and peripheral smears were also evaluated. Patients with recent transfusions or incomplete data were excluded. Results: Out of 1,340 patients, 344 (25.7%) were diagnosed with haemoglobinopathies. β-thalassemia trait was most frequent (59.9%), followed by elevated HbF cases (13.9%). Females comprised 61.7% of the study population, with the 18–35 years age group most affected. Karachi reported the highest number of cases. CE showed high analytical performance in identifying common and rare hemoglobin variants. Conclusion: CE using the Sebia Capillarys 3 Octa system is a reliable and efficient tool for hemoglobinopathy screening. The high prevalence of β-thalassemia trait highlights the need for regional screening and prevention strategies.