Point-of-Care Diagnostic Test for Beta-Thalassemia

• Published in: Biosensors (Basel) Vol. 14; no. 2; p. 83
• Main Authors: An, Ran, Avanaki, Alireza, Thota, Priyaleela, Nemade, Sai, Mehta, Amrish, Gurkan, Umut A.
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.02.2024
• Subjects: Algorithms; Anemia; Blood diseases; Cellulose acetate; Chromatography; Correlation coefficient; Correlation coefficients; Data analysis; Diagnosis; Diagnostic equipment (Medical); Diagnostic systems; Diagnostic tests; Disorders; Electrophoresis; Genetic counseling; Hemoglobin; hemoglobin disorders; hemoglobin variants; High performance liquid chromatography; Innovations; Integrated circuits; Laboratories; Liquid chromatography; microchip electrophoresis; Neonates; Point of care testing; point-of-care screening; Sickle cell disease; Spacetime; Thalassemia; World population; β-thalassemia; India; Mumbai India; microchip electrophoresis; point-of-care screening; hemoglobin variants; hemoglobin disorders; anemia; β-thalassemia
• ISSN: 2079-6374; 2079-6374
• DOI: 10.3390/bios14020083

Hemoglobin (Hb) disorders are among the most common monogenic diseases affecting nearly 7% of the world population. Among various Hb disorders, approximately 1.5% of the world population carries β-thalassemia (β-Thal), affecting 40,000 newborns every year. Early screening and a timely diagnosis are essential for β-thalassemia patients for the prevention and management of later clinical complications. However, in Africa, Southern Europe, the Middle East, and Southeast Asia, where β-thalassemia is most prevalent, the diagnosis and screening for β-thalassemia are still challenging due to the cost and logistical burden of laboratory diagnostic tests. Here, we present Gazelle, which is 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 the β-Thal screening across 372 subjects in the age range of 4–63 years at Apple Diagnostics lab in Mumbai, India. Additionally, 30 blood samples were prepared to mimic β-Thal intermediate and β-Thal major samples. Gazelle-detected levels of Hb A, Hb F, and Hb A2 demonstrated high levels of correlation with the results reported through laboratory gold standard high-performance liquid chromatography (HPLC), yielding a Pearson correlation coefficient = 0.99. This ability to obtain rapid and accurate results suggests that Gazelle may be suitable for the large-scale screening and diagnosis of β-Thal.