thalassemia

Term: thalassemia

Literally meaning: “sea in the blood”

Origin: Anc Greek

θάλασσα/thalassa(=sea)

-αιμία/-hemia (=suffix denoting blood) > αἷμα/hema(=blood)

Coined/History

Thalasemia was first described in 1925 by American paediatrician and hematologist Thomas Cooley(1871 –1945), when he observed the disorder in patients of mediteranean ancestry, especially in children of Italian and Greek immigrants.  The disease called Cooley’s anemia until doctors at the University of Rochester coined the name “thalassemia”.  Thalassamea is found usually in warmer areas, as mediteranean basin, because these areas was also prevalent to malaria and thalassemia provides some protection against it, giving benefit in thalassemia carriers.

Sourse: Lehmann H “The history of thalassemia Birth Defects Orig Artic Ser. 1982;18(7):1-11.

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Definition

Thalassemia is a group of inherited haematological diseases withautosomal recessive trait. The disease  is characterised by anemia (abnormal shape of haemoglobins) as result of mutations in genes responsible for globin proteins.