American paediatrician Dr. Thomas Cooley first described Thalassemia as a disease in 1925. Thalassemia is the most common single gene i.e. inherited haemoglobin disorder. Thalassemia major is characterized by defective production of haemoglobin which leads to a significant drop in the level of haemoglobin and cause disturbance in the transportation of oxygen to body tissues.
Thalassemia is one of the most common inherited haemoglobin disorders in Pakistan with a fairly high prevalence of the disease due to widely accepted norm of consanguineous marriages. Eventually, it increases the risk of having children with Thalassemia major.