Diagnostic patterns of haemoglobinopathies: A prospective observational study using high-performance liquid chromatography in a remote tertiary care center of Telangana.

Sumayya; Charitha Sravanthi  Battu; K Raja  Kumar

doi:10.51168/sjhrafrica.v6i6.1906

Authors

Dr. Sumayya Assistant Professor,Department of Pathology, Government Medical College and General Hospital, Bhadradri Kothagudem, Telangana, india
Dr . Charitha Sravanthi Battu Assistant Professor,Department of Pathology, Government Medical College and General Hospital, Bhadradri Kothagudem, Telangana, india
Dr . K Raja Kumar Principal and Professor, Department of Pathology, Government Medical College and General Hospital, Bhadradri Kothagudem, Telangana, india

DOI:

https://doi.org/10.51168/sjhrafrica.v6i6.1906

Keywords:

Haemoglobinopathy, sickle cell disorder, HPLC, sickle cell beta-thalassemia, hemoglobin variants, tribal population, genetic screening

Abstract

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.

Author Biographies

Dr. Sumayya, Assistant Professor,Department of Pathology, Government Medical College and General Hospital, Bhadradri Kothagudem, Telangana, india

Dr. Sumayya is working as an assistant professor at Government Medical College, Bhadradri Kothagudem, Telangana, India. She completed her MBBS from Deccan College of Medical Sciences, Hyderabad, followed by MD in pathology from the upgraded department of pathology, Osmania Medical College, Hyderabad, Telangana, India. She has 2 years of teaching experience. ORCID ID: https://orcid.org/0009-0006-7777-7215

Dr . Charitha Sravanthi Battu, Assistant Professor,Department of Pathology, Government Medical College and General Hospital, Bhadradri Kothagudem, Telangana, india

Dr. Charitha Sravanthi Battu is working as an Assistant Professor at Government Medical College, Bhadradri Kothagudem, Telangana, India. She completed her MBBS from Osmania Medical College, Hyderabad, followed by a Diploma in Clinical Pathology in the same college. She completed DNB Pathology from Basavatarakam Cancer Hospital and Research Institute, Hyderabad,Telangana, India. She has more than 3 years of teaching experience, during which she has published a research paper on blood banking in a reputed global journal.ORCID ID:https://orcid.org/0009-0003-8991-5011

Dr . K Raja Kumar, Principal and Professor, Department of Pathology, Government Medical College and General Hospital, Bhadradri Kothagudem, Telangana, india

Dr. K. Raja Kumar, MBBS, MD (Pathology), is a distinguished academician and administrator with over 20 years of extensive experience in medical education and healthcare management. He completed his undergraduate (MBBS) and postgraduate (MD in Pathology) degrees from the prestigious Kakatiya Medical College (KMC), Warangal.

Dr. Raja Kumar is currently serving as the Principal and Professor of Pathology at Government Medical College, Bhadradri Kothagudem, Telangana. Before this, he held various academic positions, including Assistant Professor at KMC Warangal and Associate Professor at Government Medical College, Suryapet, contributing significantly to the growth of both institutions through his commitment to teaching and leadership. He has published extensively in reputed international journals and continues to contribute to medical research, with a special focus on pathology and medical education. Dr. Raja Kumar is known for his dedication to student development, institutional advancement, and the promotion of evidence-based pathology practices in clinical settings. ORCID ID: https://orcid.org/0009-0006-8550-0224

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