The Thalassemias

Authors:
  • SOStuart H. Orkin
    Stuart H. Orkin
  • DNDavid G. Nathan
    David G. Nathan
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Abstract
The thalassemias are a heterogeneous collection of inherited hypochromic anemias seen largely in individuals who trace their family origins to areas in which malaria has been endemic.1 In certain geographic regions the thalassemia syndromes are common and constitute a public-health problem of considerable magnitude. Although severe forms of thalassemia are rarely encountered in the United States, heterozygous states associated with mild or no disease are frequently identified here in selected populations.The thalassemia literature abounds with syndromes that mix classical and molecular genetics with clinical hematology. This shortcoming has understandably often resulted in utter confusion for the uninitiated. Fortunately, recent . . .

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