The β-Thalassemias

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Abstract
In 1925, Thomas Cooley and Pearl Lee described a form of severe anemia, occurring in children of Italian origin and associated with splenomegaly and characteristic bone changes.1 Over the next decade, a milder form was described independently by several Italian investigators.24 Because all early cases were reported in children of Mediterranean origin, the disease was later termed thalassemia, from the Greek word for sea, thalassa.5 Over the next 20 years, it became apparent that Cooley and Lee had described the homozygous or compound heterozygous state for a recessive mendelian disorder not confined to the Mediterranean, but occurring widely . . .

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