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

Abstract

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 carry beta thalassemia (beta Thal), affecting 40,000 newborns every year. Early screening and timely diagnosis are essential in beta thalassemia patients for prevention and management of later clinical complications. However, in Africa to Southern Europe, Middle East, and Southeast Asia, where beta thalassemia is most prevalent, diagnosis and screening of beta 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 beta thalassemia. We evaluated the accuracy of Gazelle for beta Thal screening in 372 subjects in the age range of 4 to 63 years at Apple Diagnostics lab in Mubai, India. Additionally, 30 blood samples were prepared to mimic beta Thal intermediate and beta 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 beta-Thal.

Competing Interest Statement

RA, UAG, and Case Western Reserve University have financial interests in Hemex Health Inc. UAG and Case Western Reserve University have financial interests in BioChip Labs Inc. UAG and Case Western Reserve University have financial interests in Xatek Inc. UAG has financial interests in DxNow Inc. Financial interests include licensed intellectual property, stock ownership, research funding, employment, and consulting. Hemex Health Inc. offers point-of-care diagnostics for hemoglobin disorders, anemia, and malaria. BioChip Labs Inc. offers commercial clinical microfluidic biomarker assays for inherited or acquired blood disorders. Xatek Inc. offers point-of-care global assays to evaluate the hemostatic process. DxNow Inc. offers microfluidic and bio-imaging technologies for in vitro fertilization, forensics, and diagnostics. Competing interests of Case Western Reserve University employees are overseen and managed by the Conflict of Interests Committee according to a Conflict-of-Interest Management Plan.

Funding Statement

Authors acknowledge National Heart Lung and Blood Institute Small Business Innovation Research Program (R44HL140739. R41HL151015) National Heart Lung and Blood and the National Center for Complementary & Integrative Health (NCCIH) 1U54HL143541 National Institute of Diabetes and Digestive and Kidney Diseases Small Business Innovation Research Program (R41DK119048) NHLBI R01HL133574 and T32HL134622 This articles contents are solely the responsibility of the authors and do not necessarily represent the official views of the National Institutes of Health

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The study was approved by the IRB of the International Institute of Sleep Sciences (IISS)

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Data Availability

All data produced in the present study are available upon reasonable request to the authors

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