Thalassaemia (part 1)

摘要

The thalassaemias are a group of inherited blood disorders characterised by decreased or absent globin chain synthesis. The clinical syndrome of thalassaemia was first described in 1925 by Thomas Cooley, a paediatrician from Detroit. He documented a constellation of findings, including splenomegaly, severe anaemia and bony deformities in children of Italian and Greek descent, which became known as Cooley’s anaemia. The syndrome was subsequently termed thalassaemia, derived from the Greek words thalassa and haima, which translate as sea and blood, respectively, as a high prevalence was noted in areas adjacent to the Mediterranean Sea.