Clinical and Reproductive Implications of Beta Thalassemia Trait in Women: Insights from a Diagnostic Screening Program in Chandigarh, India

Background: Beta Thalassemia Trait (BTT) is a common genetic disorder in India, typically presenting as a clinically silent condition. However, its implications for women’s reproductive health remain underexplored. Objective: This study investigates the clinical and reproductive profiles of women diagnosed with BTT during a diagnostic screening program in Chandigarh, with the goal of assessing the potential health and reproductive risks associated with the trait. Methods: A cross-sectional study was conducted among 35 women identified with BTT out of a cohort of 500 patients screened for anemia. Data were collected on clinical symptoms, hematological parameters, and reproductive history. Diagnosis was confirmed using complete blood count, peripheral blood smear, serum ferritin, and High-Performance Liquid Chromatography (HPLC). Descriptive statistical analysis was performed. Results: The majority of participants were women of reproductive age (26–34 years), with 65.7% being asymptomatic. Mild symptoms such as fatigue and pallor were reported by one-third of the participants. Hematological profiles revealed microcytic hypochromic anemia with elevated HbA₂ and normal ferritin levels. Among those with a history of pregnancy, 29.2% reported miscarriages, and 20.8% experienced complications. Despite the reproductive implications, only 16.7% had received genetic counseling, and none had undergone partner screening. Conclusion: Although often asymptomatic, Beta Thalassemia Trait can contribute to reproductive challenges in women. The absence of structured genetic counseling and partner testing indicates a critical gap in preventive care. Integrating thalassemia screening into antenatal and reproductive health services is essential for reducing the burden of Beta Thalassemia Major and improving maternal outcomes.