First Point-of-Care Diagnostic Test for Beta-Thalassemia

Abstract

ABSTRACTHemoglobin (Hb) disorders are among the most common monogenic diseases affecting nearly 7% of the world’s population. Among various Hb disorders, approximately 1.5% of the world population carry β-thalassemia (β-Thal), affecting 40,000 newborns every year. Early screening and timely diagnosis are essential in β-thalassemia patients for prevention and management of later clinical complications. However, in Africa to Southern Europe, Middle East, and Southeast Asia, where β-thalassemia is most prevalent, diagnosis and screening of β-thalassemia is still challenging due to the cost and logistical burden of laboratory diagnostic tests. Here, we present Gazelle, a paper-based microchip electrophoresis platform, that enables the first point-of-care diagnostic test for β-thalassemia. We evaluated the accuracy of Gazelle for β-Thal screening in 372 subjects in the age range of 4 – 63 years at Apple Diagnostics labin Mubai, India. Additionally, 30 blood samples were prepared to mimic β-Thal intermediate and β-Thal major samples. The Gazelle detected levels of Hb A, Hb F, and Hb A2 demonstrated high correlations with the results reported by the laboratory gold standard, high performance liquid chromatography (HPLC) yielding a Pearson Correlation Coefficient = 0.99. The ability to obtain rapid and accurate results suggest that Gazelle can be suitable for large-scale screening and diagnosis of β-Thal.