The first account of thalassaemia was recorded in 1925, when an American doctor, Thomas B. Cooley and his colleague, Dr. Pearl Lee described a collection of symptoms in four young children that clearly separated their condition from other childhood anemias. The condition was referred to as Cooley’s anemia in North America. Around the same time, Italian doctors were describing the same condition in the Mediterranean area. In 1932, they started to use the name thalassaemia, which originates from the Greek word qalassa (thalassa) meaning “the sea”. Combined with anemia, it means anemia by the sea. Fifteen years later, both groups learned that Cooley’s anemia and thalassaemia were the same, now commonly known as beta thalassaemia major. In 1955, a group in Greece, and another in the U.S., described a new type of haemoglobin, which they called haemoglobin H that was associated with thalassaemia-like symptoms. This was the first account of haemoglobin H disease. In 1960 a stillborn Indonesian infant was found to have extremely elevated levels of haemoglobin H, this was the first description of alpha thalassaemia major (hydrops fetalis). After the initial discoveries relating to the various forms of thalassaemia, numerous studies have been done to clarify the genetics behind it. That research has provided an accurate picture of the different forms of thalassaemia and how it is passed on through generations in various regions around the world. The knowledge possessed today is being used to develop screening programs, which will hopefully eradicate thalassaemia over the coming generations. Thalassaemia is most prevalent in Southern Europe, the Middle East, Northern Africa and South-East Asia. Anyone living in a country with a high prevalence of thalassaemia should be screened so they can be aware of their thalassemic status, and if required discuss the implications of this with their physician or a genetic counselor.