Beta thalassemia trait: detection at birth.
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.
D001724:Birth Weight; D002247:Carbon Isotopes; D002852:Chromatography, Ion Exchange; D005865:Gestational Age; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism; D008747:Methylcellulose; D008967:Molecular Biology; D010452:Peptide Biosynthesis; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics; D014470:Umbilical Cord / Q000098:blood supply
D002247:Carbon Isotopes; D006455:Hemoglobins, Abnormal; D008747:Methylcellulose; D007930:Leucine