Awareness among Parents and Relatives of Beta-Thalassemia Major Patients Regarding Prenatal Diagnosis and Premarital Screening

Introduction: Beta-thalassemia is one of the most prevalent monogenic disorders globally, with a significant burden in India. Prevention through premarital and prenatal screening remains the most effective strategy to reduce disease incidence. However, limited awareness and inadequate implementation of screening practices contribute to the persistence of carrier states and disease transmission within families. Materials and Methods: This study was conducted over 1 year at a tertiary care center, involving 220 participants comprising first-, second-, and third-degree relatives of beta-thalassemia major patients enrolled from the thalassemia registry. Data were collected using a structured, pretested bilingual questionnaire through in-person or telephonic interviews. Participants’ knowledge was assessed using 12 questions. Socioeconomic status was determined, and data analysis was done using SPSS version 20.0. Results: The findings of the study showed that most participants were aged 41–50 years (47.3%) and were female (60.5%). Although 94.5% supported thalassemia screening and 93.2% favored premarital testing, only 15% had undergone actual screening. Awareness of antenatal screening was high (89.1%), yet only 29.1% knew the specific test name, and 61.8% were aware of the appropriate gestational age for testing. A significant association was observed between knowledge scores and key sociodemographic factors. Conclusion: The study highlights a moderate level of awareness and positive attitudes toward thalassemia prevention among relatives of affected individuals. However, a substantial gap exists between awareness and actual implementation of preventive practices. Targeted educational interventions and policy-level strategies are essential to bridge this gap and strengthen primary prevention.