Anaemia resulting from inheritance of a recessive trait responsible for interference with the rate of haemoglobin synthesis. It is the homozygous form of beta-thalassaemia, occurring in infancy. The affected infants are normal at first but, by the age of 6 to 9 months, they develop faulty erythropoiesis with anaemia and hypertrophy of the bone marrow, spleen, and liver with hepatosplenomegaly. The condition is associated with pallor, retarded growth, fever, inadequate food intake, dyspnoea, weakness, numbness and tingling of the extremities, and oedema. Death often occurs before puberty. Countries like Italy, Greece and Cyprus have the highest frequency of thalassaemia cases in the world, ca 10 percent of the Mediterranean population are carriers of this gene. There exists a thalassaemic "belt" that includes the Mediterranean passing through West and Central Asian countries like Turkey, Iran, Afghanistan onto Pakistan & India and passes on to the South East Asian countries like Indonesia, Burma & Thailand. Cooley and B. Lee (American physician) described the disease in children of Italian immigrants in the USA.
The name thalassaemia was coined by the Nobel Prize winning pathologist George Hoyt Whipple (1878-1976) and the professor of paediatrics William Leslie Bradford at University of Rochester. The word thalassaemia was derived from two Greek words - Thalassa meaning the sea and haima meaning blood, literally "sea water in the blood".
- T. B. Cooley, P. Lee:
Series of cases of splenomegaly in children with anemia and peculiar bone changes.
Transactions of the American Pediatric Society, 1925, 37: 29.
Cooley and Lee described five children in Detroit.
- T. B. Cooley:
Von Jaksch's anemia.
American Journal of Diseases of Children, Chicago, 1927, 33: 786.
- T. B. Cooley, E. R. Witwer, P. Lee:
Anemia in children with splenomegaly and peculiar changes in the bones.
American Journal of Diseases of Children, Chicago, 1927, 34: 347-363.
- G. H. Whipple, W. L. Bradford:
Mediterranean disease – thalassemia (erythroblastic anemia of Cooley); associated pigment anomalies simulating hemochromatosis.
Journal of Pediatrics, St. Louis, 1936, 9: 279-311.
- W. Dameshek:
"Target cell" anemia. Anerythrobolastic type of Cooley's erythroblastic anemia.
The American Journal of the Medical Sciences, Hagerstown, MD, 1940, 200: 445-454.