Agarwal Rajat Kumar, Dhanya Rakesh, Parmar Lalith, Sedai Amit, Mani George, Dhar Aniruddha, Hegde Santhosh, Periyavan Sundar, Erappa Nagaraj, S Anusha, Kumar Sudha, Rengaraj Balasubramani, G N Mamatha, N Manjunatha, Prasad R N, Fernandes Rashmi, Makkam Adinarayan, Faulkner Lawrence
Department of Clinical Research, Sankalp India Foundation, Bengaluru, Karnataka, India.
Thalassemia Prevention, Sankalp India Foundation, Bengaluru, Karnataka, India.
Indian J Med Res. 2025 May;161(5):441-448. doi: 10.25259/IJMR_1003_2024.
Background & objectives India carries a significant burden of hemoglobinopathies, with beta-thalassemia and sickle cell disease (SCD) carrier rates ranging from 3-40 per cent by region. Despite the importance of universal screening, widespread prevention is challenging due to socio-cultural stigma, low awareness, and poor follow up. Sankalp's thalassemia prevention program used targeted prenatal screening rather than mass or cascade screening. The aim of this study was to assess the efficacy and feasibility of a targeted antenatal screening strategy for the prevention and management of severe hemoglobinopathies in India. Methods A cross-sectional study was conducted in 36 districts across five Indian States between April 2023 and March 2024. Pregnant women within 20 wk gestation attending public hospitals were screened for hemoglobinopathies using high-performance liquid chromatography (HPLC). If a woman was identified as a carrier, her partner was tested. At-risk couples received molecular confirmation, followed by prenatal testing and counselling to support informed decisions. Results Of the total 34,647 enrolled women, 33,270 (96%) were screened, identifying 2,268 (6.8%) carriers, 903 (2.7%) beta thalassemia, 1,176 (3.5%) SCD, and 189 (0.6%) other hemoglobinopathies. Partners of 1,959 women (86.4%) were tested, identifying 339 at-risk couples. Testing was unnecessary in five cases due to benign mutations. Fetal testing was completed in 246 pregnancies, identifying 65 affected foetuses. Among these, 44 families (68%) chose to discontinue pregnancy. One affected birth was prevented for every 787 families enrolled. Interpretations & Conclusions The Sankalp program for hemoglobinopathies prevention demonstrates that targeted antenatal screening within public healthcare is a feasible, effective, and scalable strategy for hemoglobinopathy prevention in socio-economically disadvantaged populations.
印度血红蛋白病负担沉重，β地中海贫血和镰状细胞病（SCD）的携带率因地区而异，在3%至40%之间。尽管普遍筛查很重要，但由于社会文化污名、意识淡薄和随访不佳，广泛预防具有挑战性。Sankalp的地中海贫血预防项目采用了有针对性的产前筛查，而不是大规模或级联筛查。本研究的目的是评估在印度预防和管理严重血红蛋白病的有针对性的产前筛查策略的有效性和可行性。方法：2023年4月至2024年3月期间，在印度五个邦的36个地区进行了一项横断面研究。对在公立医院就诊的妊娠20周内的孕妇使用高效液相色谱法（HPLC）进行血红蛋白病筛查。如果一名女性被确定为携带者，则对其伴侣进行检测。高危夫妇接受分子确诊，随后进行产前检测和咨询，以支持做出明智的决定。结果：在总共34647名登记女性中，33270名（96%）接受了筛查，确定了2268名（6.8%）携带者，903名（2.7%）β地中海贫血，1176名（3.5%）SCD，以及189名（0.6%）其他血红蛋白病。对1959名女性（86.4%）的伴侣进行了检测，确定了339对高危夫妇。由于良性突变，5例检测不必要。246例妊娠完成了胎儿检测，确定了65例受影响胎儿。其中，44个家庭（68%）选择终止妊娠。每787个登记家庭可预防一例受影响的出生。解读与结论：Sankalp血红蛋白病预防项目表明，在公共医疗保健中进行有针对性的产前筛查是社会经济弱势群体预防血红蛋白病的一种可行、有效且可扩展的策略。
