Integrated laboratory evaluation of hemoglobinopathies in an Indian tertiary care center: A hematological, HPLC, and molecular study

Meghana P, Reddy MS

Pdf Page Numbers :- 23-27

Meghana P^1,* and Saritha Reddy M²

¹Department of Hematopathology, Bagchi Sri Shankara Cancer Centre and Research Institute, Bhubaneswar, Odisha – 752054, India

²Department of Pathology, Sri Siddhartha Medical College, Tumkur, Karnataka – 572107, India

*Corresponding author: Dr. Meghana P, M.D. (Pathology), Department of Hematopathiology, Bagchi Sri Shankara Cancer Centre and Research Institute, Bhubaneswar, Odisha – 752054, India. Email: meghanap.mp@gmail.com

Received 13 August 2025; Revised 10 October 2025; Accepted 22 October 2025; Published 7 November 2025

Citation: Meghana P, Reddy MS. Integrated laboratory evaluation of hemoglobinopathies in an Indian tertiary care center: A hematological, HPLC, and molecular study. J Med Sci Res. 2026; 14(1):23-27. DOI: http://dx.doi.org/10.17727/JMSR.2026/14-4

Copyright: © 2026 Meghana P et al. Published by KIMS Foundation and Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Abstract

Background: Hemoglobinopathies are a significant diagnostic and preventive challenge in India, with thalassemias being the most common inherited disorders. Overlapping hematological indices and hemoglobin fraction patterns often complicate detection, particularly in carriers and compound heterozygotes. This study evaluates the diagnostic spectrum and utility of hematological parameters, HPLC, and molecular testing for accurate classification.

Materials and methods: This ambispective observational study included 282 patients evaluated for suspected hemoglobinopathies from June 2022 to June 2023. Retrospective data (June–December 2022) and prospective cases (January–June 2023) were analyzed using standardized protocols. Investigations included complete blood counts, red cell indices, reticulocyte counts, sickling and solubility tests, peripheral smear, and HPLC. Cases were categorized into thalassemia and sickle cell disorders. Molecular testing was performed in selected cases with inconclusive or borderline findings. Statistical analysis employed one-way ANOVA and chi-square tests.

Results: Thalassemias were the predominant disorders. β-thalassemia trait showed elevated RBC counts with low MCV and MCH and increased HbA2, while α-thalassemia presented with microcytosis and normal HbA2 and HbF, requiring molecular confirmation. Common β-thalassemia mutations included IVS-I-5 (G>C), Codon 41/42 (–CTTT), Codon 8/9 (+G), and 619 bp deletion; α-thalassemia was mainly associated with –α³·⁷ and –α⁴·² deletions. Significant correlations were observed between hematological indices, HPLC findings, and molecular results (p < 0.001).

Conclusion: Thalassemias remain the most prevalent hemoglobinopathies in Indian tertiary care settings. An integrated approach combining hematological indices, HPLC, and targeted molecular testing is essential for accurate diagnosis, carrier detection, and genetic counseling.

Keywords: hemoglobinopathies; thalassemia; sickle cell disease; HPLC; molecular testing; carrier screening