Effect of parental knowledge on their thalassemia status and the time of diagnosis of their offspring in Kurunegala, Kandy, and Gampaha Districts.

Background: Beta-thalassemia represents the most prevalent monogenic disorder in Sri Lanka, with approximately 2,000 active cases requiring lifelong transfusion therapy and 80 new cases born annually. Despite the availability of voluntary carrier screening since 2007, the impact of preconceptional parental awareness on screening and clinical outcomes remains poorly characterized. Objective: To evaluate the association between preconceptional parental thalassemia carrier status awareness and the timing of diagnosis, hemoglobin levels at diagnosis, and long-term complications in children with beta-thalassemia major. Methods: We conducted a multicenter cross-sectional study across three major thalassemia centers in Kurunegala, Kandy, and Gampaha districts. Laboratory-confirmed beta-thalassemia major patients under 18 years were recruited. Primary outcomes included mean age at diagnosis and hemoglobin levels at the time of diagnosis, stratified by parental preconceptional carrier awareness status. Secondary outcomes included complications such as encompassed growth parameters, organ complications, and therapeutic interventions. Results: Among 279 beta-thalassemia major patients, only 42 (15.1%) had at least one parent with preconceptional carrier status awareness. Children of thalassemia status aware parents were diagnosed significantly earlier (5.39 ± 4.2 months vs. 8.32 ± 7.8 months, p < 0.001) and had higher hemoglobin levels at diagnosis (6.23 ± 1.5 g/dL vs. 5.47 ± 1.2 g/dL, p < 0.0001). Notably, children of preconceptionally unaware parents about thalassemia status demonstrated higher rates of complications such as splenomegaly (15.2% vs. 7.1%, p = 0.043), endocrine complications including hypothyroidism (9.3% vs. 14.3%, p = 0.028), and required more palliative interventions including splenectomy (2.1% vs. 0%, p = 0.001). Conclusions: Preconceptional parental carrier awareness is associated with earlier diagnosis, higher hemoglobin levels at presentation, and reduced long-term complications in beta-thalassemia major. These findings support the implementation of mandatory preconceptional screening programs and enhanced public health education initiatives to reduce disease burden and improve patient outcomes. This study provides the first comprehensive evidence from Sri Lanka demonstrating that parental awareness leads to measurable improvements in clinical outcomes, supporting policy recommendations for universal preconceptional screening.