Extended family screening for thalassemia trait in North India: evaluating possible impact and identifying barriers

Cascade screening efficiently identifies thalassemia carriers, but uptake remains low despite counselling. Barriers, including stigma, limited awareness, accessibility issues, and inadequate system support, hinder implementation. Thalassemia major/Transfusion-dependent thalassemia (TDT), an autosomal recessive inherited disorder, is one of the most prevalent genetic diseases worldwide, with India carrying the highest burden. Despite the availability of preventive strategies such as premarital, antenatal and mass screening, their uptake remains limited due to low awareness. This study aimed to assess the extent of extended family screening among patients with TDT and to identify barriers to screening. A cross-sectional study was conducted at the Thalassemia Day Care Center of a tertiary care hospital in Punjab, following approval from the Institutional Ethics Committee. A predesigned, vernacular-translated questionnaire was administered to 250 TDT patients or their parents during transfusion visits. The mean age of index cases was 14.15 ± 8.72 years with a male-to-female ratio of 1.38:1. Among 275 siblings, 54.9% were screened, and 43% were found to be carriers. Screening rates were similar in males (56.4%) and females (53.4%). On the maternal side, 13.7% of 663 siblings and 3.4% of 1137 children of maternal uncles/aunts were screened, with carrier rates of 42.8% and 7.6%, respectively. On the paternal side, 13.1% of 664 siblings and 4.8% of 1,274 children of paternal uncles/aunts were screened, with 39% and 19.6% identified as carriers, respectively. All five married index cases had their partners tested. Common barriers included social stigma, lack of awareness, and sibling marriage before diagnosis. Cascade screening presents potential cost advantages; however, formal economic evaluations and culturally sensitive, structured programs are required to realize its full preventive impact.