In 1925, Thomas B Cooley a Detroit pediatrician, gave the first description of severe thalassemia in the Transaction of the American Pediatric Society.
He describe children with anemia splenomegaly, hepatomegaly, discoloration of skin and of the sclera, and no bile in the urine.
In 1932, when George Whipple suggested the term ‘thalassemia’, Thomas Cooley noticed that the disease he had clinically defined showed a clear familial incidence.
The name thalassemia derived from the Greek words for sea – thalassa, referring it to its high frequency among the Mediterranean populations and for blood – aima.
Later, Heinrich Lehndorf proposed that Cooley’s anemia was an inherited disease due to a genetic mutation. Thalassemia is most common in people of Mediterranean ancestry (especially Italian and Greek) but also occurs in blacks and people from southern China, Southeast Asia and India.
From 1949-1960 thalassemia was established as a genetic disorder of hemoglobin synthesis.
In 1991, bone fragments dating back to prehistoric times with pathological signs of thalassemia, were discovered near Haifa, Israel, making it one of the world’s oldest known diseases.
History of Thalassemia