Diagnostic patterns of haemoglobinopathies: A prospective observational study using high-performance liquid chromatography in a remote tertiary care center of Telangana.
Background Haemoglobinopathies, including sickle cell disorders and thalassemias, are significant genetic conditions that alter hemoglobin structure and function. High-performance liquid chromatography is a sensitive and reliable tool for identifying hemoglobin variants. This study aimed to analyze...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Student's Journal of Health Research
2025-06-01
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| Series: | Student's Journal of Health Research Africa |
| Subjects: | |
| Online Access: | https://sjhresearchafrica.org/index.php/public-html/article/view/1906/1556 |
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| Summary: | Background
Haemoglobinopathies, including sickle cell disorders and thalassemias, are significant genetic conditions that alter hemoglobin structure and function. High-performance liquid chromatography is a sensitive and reliable tool for identifying hemoglobin variants. This study aimed to analyze the diagnostic patterns of haemoglobinopathies using HPLC in a tertiary care center serving the tribal population of Telangana.
Methods
A prospective observational study was conducted over 18 months (June 2023 to December 2024) involving 182 patients attending a tertiary care hospital. Hemoglobin variants—Hb A0, Hb A2, Hb F, and Sickle Cell Window—were analyzed using HPLC. Red cell distribution width (RDW-CV) was assessed to evaluate erythrocyte size variability. Diagnostic classification was based on HPLC parameters, including specific thresholds for sickle cell disease, trait, and beta-thalassemia.
Results
Among the 182 cases, 6 (3.3%) were diagnosed with sickle cell disease (S-window >40%), 62 (34.1%) with sickle cell trait (S-window <40%), and 9 (4.9%) with probable sickle cell beta-thalassemia trait (S-window <40% and Hb A2 between 3.5–4.5%). The remaining 105 cases (57.7%) were unclassified on HPLC alone but showed features suggestive of iron deficiency anemia, anemia of chronic disease, or borderline hemoglobinopathy patterns. Mean values observed were: Hb A0 = 71.77%, Hb A2 = 2.81%, Hb F = 2.11%, and Sickle Cell Window = 36.58%. RDW-CV was highest in sickle cell disease cases (mean 17.27%) compared to the trait (15.35%).
Conclusion
This study demonstrates a high burden of sickle cell disorders among the tribal population in Telangana. HPLC proves to be a valuable diagnostic modality, but further molecular testing is essential for accurate classification, particularly in compound and borderline cases. Early identification, genetic counseling, and targeted screening are vital for managing haemoglobinopathies in high-risk regions.
Recommendations
Implement universal newborn screening, strengthen genetic counseling services, enhance molecular diagnostics, and promote community awareness for effective haemoglobinopathy management. |
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| ISSN: | 2709-9997 |