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Beta Thalassemia Trait: Detection at Birth

1968; American Association for the Advancement of Science; Volume: 161; Issue: 3841 Linguagem: Inglês

10.1126/science.161.3841.589

1095-9203

Yuet Wai Kan, David G. Nathan,

Iron Metabolism and Disorders

The synthesis of alpha, beta, and gamma chains in samples of cord blood was measured by the incorporation of leucine labeled with carbon-14 into these chains. In a newborn affected with beta thalassemia trait, the presence of one beta thalassemia gene was revealed on the 1st day of life by the lower specific radioactivity of the beta chain.