No abstract

Hemoglobinopathies like β-thalassemia and sickle cell anemia are very prevalent in India. The only way of prevention of this severe genetic disorder is to identify the carriers and counsel them about the clinical severity of the disease and to create awareness about the options of prenatal diagnosis (PND) and Preimplantation genetic diagnosis (PGD). In this paper we report our experience on the PND and PGD in haematological disorders carried out at our centre, Jaslok Hospital in India. Material and methodsPrenatal diagnosis was offered to 9 couples for β-thalassemia and 1 couple for sickle cell anemia using amplified refractory mutation