Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospital

Background: Hemoglobinopathies are a group of inherited disorders characterized by abnormal hemoglobin structure or synthesis, primarily classified into thalassemia syndromes and structural hemoglobin variants. Recognized as a global health priority, these disorders necessitate accurate diagnostic a...

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Main Authors: Parineeta Shelke, Preeti Doshi, Amit Nisal, Abdulrahaman Momin, Ravindra Nimbargi
Format: Article
Language:English
Published: Golestan University of Medical Sciences 2025-03-01
Series:Medical Laboratory Journal
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Online Access:http://mlj.goums.ac.ir/article-1-1562-en.pdf
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author Parineeta Shelke
Preeti Doshi
Amit Nisal
Abdulrahaman Momin
Ravindra Nimbargi
author_facet Parineeta Shelke
Preeti Doshi
Amit Nisal
Abdulrahaman Momin
Ravindra Nimbargi
author_sort Parineeta Shelke
collection DOAJ
description Background: Hemoglobinopathies are a group of inherited disorders characterized by abnormal hemoglobin structure or synthesis, primarily classified into thalassemia syndromes and structural hemoglobin variants. Recognized as a global health priority, these disorders necessitate accurate diagnostic approaches. High-performance liquid chromatography (HPLC) has emerged as a reliable method for their detection. This study aimed to analyze the spectrum of hemoglobinopathies using HPLC in a population from Western Maharashtra, India. Methods: A cross-sectional study was conducted at Bharati Vidyapeeth (DTU) Medical College, Pune, over three years. A total of 1,455 specimens from individuals of both genders were analyzed using the VARIANT™ II β-Thalassemia Short Program based on ion-exchange chromatography. Hematological parameters were assessed for all subjects, and the prevalence of hemoglobinopathies, along with their subtypes, was documented. Results: The mean age of the study population was 26.91 ± 7.06 years, with a female predominance. The overall incidence of hemoglobinopathies was 8.78%, with β-thalassemia minor being the most prevalent, followed by β-thalassemia major, Hb S trait, and Hb S disease. Rare variants included two cases of Hb D Punjab heterozygosity and one case of Hb E heterozygosity. The Mentzer index exhibited a positive correlation with Hb F and mean corpuscular hemoglobin (MCH) and a negative correlation with hemoglobin levels, Hb A, and red cell distribution width (RDW-C). Conclusion: The study revealed an 8.78% prevalence of hemoglobinopathies in the region, with β-thalassemia trait (Heterozygous) being the most common. Notably, co-inheritance of Hb E with β-thalassemia exacerbated anemia severity. These findings underscore the importance of HPLC-based screening for early diagnosis and management of hemoglobinopathies in high-risk populations.
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spelling doaj-art-c29d65671b1c43c7b2ead6aab87744e22025-08-20T03:42:18ZengGolestan University of Medical SciencesMedical Laboratory Journal2538-44492025-03-0119215Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospitalParineeta Shelke0Preeti Doshi1Amit Nisal2Abdulrahaman Momin3Ravindra Nimbargi4 Department of Pathology, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, Maharashtra, India Department of Pathology, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, Maharashtra, India Department of Pathology, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, Maharashtra, India Department of Pathology, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, Maharashtra, India Department of Biochemistry, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, Maharashtra, India Background: Hemoglobinopathies are a group of inherited disorders characterized by abnormal hemoglobin structure or synthesis, primarily classified into thalassemia syndromes and structural hemoglobin variants. Recognized as a global health priority, these disorders necessitate accurate diagnostic approaches. High-performance liquid chromatography (HPLC) has emerged as a reliable method for their detection. This study aimed to analyze the spectrum of hemoglobinopathies using HPLC in a population from Western Maharashtra, India. Methods: A cross-sectional study was conducted at Bharati Vidyapeeth (DTU) Medical College, Pune, over three years. A total of 1,455 specimens from individuals of both genders were analyzed using the VARIANT™ II β-Thalassemia Short Program based on ion-exchange chromatography. Hematological parameters were assessed for all subjects, and the prevalence of hemoglobinopathies, along with their subtypes, was documented. Results: The mean age of the study population was 26.91 ± 7.06 years, with a female predominance. The overall incidence of hemoglobinopathies was 8.78%, with β-thalassemia minor being the most prevalent, followed by β-thalassemia major, Hb S trait, and Hb S disease. Rare variants included two cases of Hb D Punjab heterozygosity and one case of Hb E heterozygosity. The Mentzer index exhibited a positive correlation with Hb F and mean corpuscular hemoglobin (MCH) and a negative correlation with hemoglobin levels, Hb A, and red cell distribution width (RDW-C). Conclusion: The study revealed an 8.78% prevalence of hemoglobinopathies in the region, with β-thalassemia trait (Heterozygous) being the most common. Notably, co-inheritance of Hb E with β-thalassemia exacerbated anemia severity. These findings underscore the importance of HPLC-based screening for early diagnosis and management of hemoglobinopathies in high-risk populations.http://mlj.goums.ac.ir/article-1-1562-en.pdfhemoglobinopathiesbeta-thalassemiahemoglobin a2hemoglobin ehigh-performance liquid chromatography
spellingShingle Parineeta Shelke
Preeti Doshi
Amit Nisal
Abdulrahaman Momin
Ravindra Nimbargi
Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospital
Medical Laboratory Journal
hemoglobinopathies
beta-thalassemia
hemoglobin a2
hemoglobin e
high-performance liquid chromatography
title Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospital
title_full Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospital
title_fullStr Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospital
title_full_unstemmed Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospital
title_short Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospital
title_sort chromatographic insights into hemoglobinopathies spectrum analysis by high performance liquid chromatography in a western indian tertiary care hospital
topic hemoglobinopathies
beta-thalassemia
hemoglobin a2
hemoglobin e
high-performance liquid chromatography
url http://mlj.goums.ac.ir/article-1-1562-en.pdf
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