Prenatal diagnosis in Thalassemia – Prevention is better than cure

Abstract

Thalassemia is one of the common hereditary blood disorders. Various clinical, psychological and financial problems make huge impact in the affected family. In India, there are nearly 42 million carriers of β-thalassemia genes. Identification of carriers and preventing births of thalassemia major patients is essential to decrease the disease burden in the country. All parents who visit our hospital for treatment of their children with thalassemia major were provided genetic counseling regarding the risk of recurrence in future pregnancies. During the study period, two high risk couples who had previously affected children with thalassemia major (three affected children in case 1 and one affected child in case 2) had a subsequent pregnancy. In both the families, mutation testing and prenatal genetic testing (chorionic villus sampling in case 1 and amniocentesis in case 2) were performed. The fetus was confirmed to be unaffected in both the cases. This led to the birth of healthy babies in the families with previous children being affected. Thalassemia major is a preventable disease. Prenatal genetic testing should be performed for all high risk couples