Pre-implantation Genetic Diagnosis (PGD), now more commonly referred to as Pre-implantation Genetic Testing for Monogenic Disorders (PGT-M), is a technique used in conjunction with in vitro fertilization (IVF) to prevent the transmission of specific genetic disorders from parents to their offspring. This technique enables to examine the embryo’s genome at a very early stage, thereby detecting abnormal segments on a specific gene that is inherited from the parents. Thalassemia is one such genetic disorder that can be screened using PGT-M.

Thalassemia is the most common recessive genetic disease in the world accounting for about 4.8% of the global population. This is an inherited disease that affects both genders. Thalassemia is related to genetic defects that impair the function of red blood cells. There are two main types of the disease, alpha-thalassemia and beta-thalassemia. Patients with the disease will have frequent hemolysis leading to chronic anemia, requiring lifelong blood transfusions and iron chelation.

Thalassemia is a hereditary disease. If both parents carry the gene, there is a 25% chance that the child will have the disease. During IVF procedures, in order to identify healthy embryos, PGD is carried out, where a small number of cells are removed from the embryo, and the DNA is tested to identify the embryos that have not got the disease gene from the parents. Couples who choose PGD could usually conceive naturally, but are using IVF specifically so that they can have healthy babies, and prevent passing on of the abnormal genes to subsequent generations.