Hemoglobin variants in India: A referral center-based descriptive analysis using high-performance liquid chromatography

Résumé fourni par la source

Objectives: The objective of the study is to describe the distribution of hemoglobin (Hb) variants among patients referred for high-performance liquid chromatography (HPLC) screening at a tertiary care center in India. Hemoglobinopathies are among the most common inherited disorders in India. While population-based studies provide prevalence estimates, hospital-based data offer insights into the clinical burden in high-risk groups. This study presents a descriptive analysis of Hb variants among patients referred for HPLC testing at a tertiary referral center. Material and Methods: This retrospective study analyzed 3,052 patients referred for HPLC screening between October 2019 and October 2024. Patients were referred based on clinical suspicion of anemia or hemoglobinopathy. Hb variants were identified using HPLC, and demographic and laboratory data were retrieved from electronic medical records. Results: Abnormal Hb patterns were observed in 48.53% of referred patients. Beta thalassemia trait (36.39%) and HbE variants (Homozygous: 20.66%, Heterozygous: 14.44%) were most common, with regional clustering in West Bengal and Assam. Sickle cell variants were more prevalent in Odisha, Jharkhand, and Telangana. Conclusion: This referral center-based analysis highlights the regional burden of hemoglobinopathies and underscores the need for targeted screening and genetic counseling. Findings should be interpreted in the context of referral bias and the absence of confirmatory molecular testing.

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