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: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Golestan University of Medical Sciences
2025-03-01
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| Series: | Medical Laboratory Journal |
| Subjects: | |
| Online Access: | http://mlj.goums.ac.ir/article-1-1562-en.pdf |
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| Summary: | 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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| ISSN: | 2538-4449 |