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ORIGINAL RESEARCH article
Front. Hematol.
Sec. Red Cells, Iron and Erythropoiesis
Volume 4 - 2025 | doi: 10.3389/frhem.2025.1461498
This article is part of the Research Topic Investigations and Management of Hereditary Red Blood Cells Diseases View all 4 articles
HPLC first approach in detecting thalassemia and other common hemoglobinopathies is more cost and time effective
Provisionally accepted
Sundar Periyavan 1 Sudha Kumar 1 Mamatha G N 1 Santhosh Hegde 1 Suman Jain 2
Rakesh Dhanya 1
Rajat Kumar Agarwal 1,3* Lawrence Faulkner 1,4- 1 Sankalp India Foundation, Bangalore, Karnataka, India
- 2 Thalassemia and Sickle Cell Society, Hyderabad, India
- 3 Jagriti Innohealth Platforms Pvt Ltd, Bangalore, India
- 4 Cure2children Foundation, Firenze, Italy
Introduction: To study the effectiveness of HPLC as the initial step for thalassemia / hemoglobinopathies carrier identification in contrast to the conventional CBC-first approach. Materials and methods: This multicentre study was conducted in 4 hospitals in South and Central India from July 2021 to December 2022 enrolling 6549 antenatal women. Complete blood count and High-Performance Liquid Chromatography (HPLC) tests for beta thalassemia trait and common variants were performed. Cost-effectiveness and efficacy of three different approaches: CBC as the first step followed by HPLC for low MCV/MCH samples, HPLC as the first step, and HPLC and CBC performed together. Results: The sensitivity and specificity of the first step with MCV and MCH cut-offs for all hemoglobinopathy carriers were 80.8% and 50% respectively. For beta thalassemia carriers alone, the sensitivity and specificity were 96.1% and 50.6%. For sickle cell disease carriers, the sensitivity was 69% while the specificity was 51.4%. Using only CBC as the first step, we would have missed 14.1% of all hemoglobinopathy carriers. The cost of doing HPLC first was 0.7% higher than doing CBC as the first step and then following up with HPLC. The increase in cost was 47.8% if we performed HPLC and CBC together. Conclusion: We conclude that doing HPLC as the first step is cost-effective, saves time, manpower and seems to be the preferable approach for prevention programs. HPLC as the first step identified several types of hemoglobinopathies, including alpha and beta variants, which would have otherwise been missed by the conventional CBC-first screening method.
Keywords: Thalassemia, hemoglobinopathy, cbc, HPLC, cost, detection, prevention Category: Regular Manuscripts
Received: 08 Jul 2024; Accepted: 14 Feb 2025.
Copyright: © 2025 Periyavan, Kumar, N, Hegde, Jain, Dhanya, Agarwal and Faulkner. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Rajat Kumar Agarwal, Sankalp India Foundation, Bangalore, 560034, Karnataka, India
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