Validation of Gazelle Microchip Electrophoresis for Premarital Hemoglobinopathy Screening in Türkiye.

INTRODUCTION

Hemoglobinopathies, the most prevalent recessive monogenic disorders globally, encompass thalassemia syndromes and structural hemoglobin variants, affecting approximately 5% of the world's population as carriers, with around 315,000 affected births annually. These conditions are especially common in regions including the Mediterranean Basin, parts of Africa, the Middle East, India, and Southeast Asia. Traditional screeningcomplete blood count (CBC), high-performance liquid chromatography (HPLC), and capillary electrophoresis (CE)followed by molecular genetic confirmation, requires skilled personnel and advanced facilities, which are often scarce in high-prevalence, low-resource areas, rendering them inaccessible to many. Gazelle, a novel, point-of-care (POC) microchip-based cellulose acetate electrophoresis platform, promises an affordable and accessible alternative for detecting common hemoglobin variants.

METHODS

This study evaluates Gazelle's performance against HPLC for premarital screening in Antalya, Türkiye, enrolling 616 participants: 516 for screening and 100 known carriers (81 beta-thalassemia, 19 sickle cell) as controls. Participants underwent CBC, HPLC, and Gazelle testing, with positive results confirmed by beta-gene sequencing.

RESULTS

Among the 516 screened (55.1% women, 44.9% men, average age 32.75 ± 11.25 years), 16 traits (3.2%) were identified, including 14 beta-thalassemia, one HbS, and one HbD. Statistical analysis confirmed 100% diagnostic agreement between Gazelle and HPLC.

CONCLUSION

Gazelle's advantages include rapid results, digital storage, Wi-Fi connectivity, portability, and printed reports, which make it a transformative tool for identifying hemoglobin variants like HbA, HbS, HbF, and HbA2, and accurately detecting β-thalassemia carriers in resource-limited settings. Future efforts will focus on analytically validating Gazelle through evaluations of sample stability, operator variability, and repeatability/reproducibility in clinical settings to strengthen its positioning as a screening platform.

UNLABELLED: Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.