Prevalence and Hematological Profile of Beta Thalassemia Trait in an Urban Indian Population: A Cross-Sectional Study from Chandigarh

Abstract

Background: Beta Thalassemia Trait (BTT) is a prevalent inherited hemoglobin disorder in India, often undetected due to its asymptomatic presentation. Understanding its distribution and hematological profile in urban populations is essential for effective screening and prevention strategies.

Objective: This study aimed to determine the prevalence and hematological characteristics of Beta Thalassemia Trait among patients in Chandigarh, a North Indian urban center, using a comprehensive diagnostic protocol.

Methods: A cross-sectional study was conducted among 500 patients referred for anemia evaluation. Complete blood count (CBC), peripheral blood smear (PBS), serum ferritin, and High-Performance Liquid Chromatography (HPLC) were used for diagnosis. Individuals with elevated HbA₂ levels (>3.5%) and normal ferritin were identified as BTT carriers. Descriptive statistics were used to analyze demographic and hematological data.

Results: Out of 500 screened individuals, 50 (10%) were diagnosed with BTT. The majority were females (70%), particularly in the 26–34 age group. Most were asymptomatic, though some reported fatigue or reproductive challenges. Hematologically, carriers showed reduced hemoglobin (mean: 9.5 g/dL), low MCV and MCH, normal ferritin, and PBS findings of microcytosis, hypochromia, and target cells. HPLC confirmed elevated HbA₂ (mean: 5.5%) and mild HbF elevation in select cases.

Conclusion: The study reveals a significant prevalence of Beta Thalassemia Trait in Chandigarh, particularly among women of reproductive age. Routine screening, especially during antenatal care, and integration of genetic counseling and partner testing are crucial for preventing the transmission of Beta Thalassemia Major. Findings support the expansion of urban thalassemia screening programs in India.

Keywords: Beta Thalassemia Trait, Hemoglobinopathy, Prevalence, High-Performance Liquid Chromatography, Genetic Counseling