Did you know that the first clinical description of the group of diseases we now call thalassaemia was made by the American paediatrician Thomas Cooley in 1925 in a single page of the Transactions of the American Pediatric Society?1 Cooley’s (1871-1945) anaemia, as it was called, described a series of cases of splenomegaly in children with anaemia and peculiar bone changes.
Apparently, Cooley was an austere and arrogant man. He was appointed professor of paediatrics at Wayne University and director of the Children’s Hospital in 1936. He was a first-class organiser of clinical research but many of his ideas were not accepted, perhaps because of his personality.
The term thalassaemia was first used by Whipple and Bradford in 1932. The term thalassaemia comes from the Greek word meaning the sea, although it’s relation to the Greek armies’ retreat from Persia is somewhat dubious. The clinical picture of thalassaemia was well defined by the late 1930s however, the idea that thalassaemia was a genetic disorder was first proposed by the Greek clinician J Caminopetros in 1936.
The words of Wintrobe are prescient:
Discovery begins with observation or the posing of a question. But observation is not as simple as it sounds. A lesson from history is that many look, but few see.
Read more:
Wintrobe M.M. Blood Pure and Eloquent. McGraw-Hill Book Company. 1980. ISBN 0-07-071135-6