Effectiveness of Cascade Screening in the Detection of β-Thalassemia Carriers and Prevention of Thalassemia Major
Keywords:
Beta-thalassemia, cascade screening, carrier detection, hemoglobinopathy, genetic counseling, prenatal diagnosis, disease prevention.Abstract
Background & Objectives: Beta-thalassemia isone of the most common autosomal recessivehemoglobinopathies worldwide, imposing asubstantial financial, psychological, and clinicalburden on affected families and healthcaresystems. Because universal population screeningis often resource-prohibitive in developing nations, targeted screening mechanisms areurgently required.
References
1. Flint, J., Harding, R. M., Boyce, A. J., & Clegg, J. B. (1998). The population genetics of the haemoglobinopathies. Baillière's Clinical Haematology, 11(1), 1–51.
2. Williams, T. N., & Weatherall, D. J. (2012). World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harbor Perspectives in Medicine, 2(9), a011692




