PERINATOLOGY • Vol 24 • No. 1 • May–Aug 2023 • 27 Original Article Sampagar A, et al. Feasibility and Cost Analysis of Antenatal Screening and Diagnosis of Hemoglobinopathies Conclusion: This study demonstrates that antenatal screening of hemoglobinopathies is feasible and cost-effective. The 3.4% prevalence of BTT in the study cohort indicates the importance of universalizing antenatal screening for the prevention of β-thalassemia major births and achieving a thalassemiafree India. Key Words: β-Thalassemia, high-performance liquid chromatography, red cell indices, amniocentesis, consanguinity, antenatal counseling Introduction Thalassemias and other hemoglobinopathies are the most common single-gene disorders prevalent worldwide.1 In India, β-thalassemias, sickle cell disorders, and HbE disorders are a significant health burden.2,3 Every year, in India, 12,000 to 15,000 children are born with β-thalassemia major, which accounts for 10% of the worldwide incidence of thalassemia.4 Also, India has a high number of thalassemia carriers, with a prevalence rate of 3% to 4%.5,6 Optimal management of β-thalassemia major requires regular blood transfusions, iron chelation, and clinical and laboratory monitoring, which can be an economic and psychosocial burden to the affected families. The treatment expenses of transfusion-dependent hemoglobinopathies such as β-thalassemia major can range from INR 1,00,000 to 2,50,000 (USD 1211 to 3028) per year, which can exceed depending on the age and other complications.7,8 Hematopoietic stem cell transplantation (HSCT) can be a curative option; however, it is unavailable to most children because of the lack of suitable donors, cost involved, and relatively fewer centers offering HSCT in India.9 Hence, the focus should be on devising a feasible and effective prevention program. Detection of carriers is an essential aspect of the prevention program. Carrier screening can be done at the premarital stage or preconception stage; however, there could be several sociocultural barriers to its acceptance. Hence, antenatal screening of β-thalassemia is probably the most practical and acceptable approach. By implementing the antenatal screening approach, countries like Cyprus have eradicated the disease, and countries like Pakistan and Iran have recorded a gross reduction in the disease burden.10-12 The prevalence of the β-thalassemia trait (BTT) is well-studied in the northern and western states of India; however, there is a paucity of data from southern India, which has a prevalence ranging from 0.6% to 15%.13-16 Furthermore, it is known that the prevalence of BTT varies even in small geographic areas, thus highlighting the importance of micromapping.4,5 Hence, we undertook this study to evaluate the prevalence of BTT and other hemoglobinopathies and identify at-risk couples followed by genetic counseling with the aim of preventing hemoglobinopathies. Aim To assess the role of antenatal screening and diagnosis in the prevention of hemoglobinopathies and assess the feasibility and cost of the screening Materials and Methods Study design This prospective, cross-sectional study was conducted at the Department of Obstetrics in collaboration with the Department of Pathology, KLE Academy of Higher Education and Research, Jawaharlal Nehru Medical College (Belagavi, Karnataka, India), from April 2020 to April 2021. The institutional ethics committee’s approval was sought for the study.
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