Thalassemia is one of the most prevalent inherited blood disorders all over the world. There are some specific hematologic tests and molecular genetic techniques known for diagnosis of thalassemia. Nowadays, various types of drugs are used for the treatment of thalassemia. Hydroxyurea, Hydroxycarbamide, Deferiprone, Deferisirox, Butyrate and its derivatives are some of the most common and well known drugs which are used for increasing the HbF percentage and iron chelation. Pharmacogenomics is the branch of pharmacology that is associated with the influence of genetic variations on the drug response among patients by correlating genetic variations, expression pattern or single-nucleotide polymorphisms with a drug's efficacy or toxicity. With the help of Pharmacogenomics study "personalized medicine" has been explored, in which drugs and drug combinations are optimized for the genetic makeup of each individual.