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Research Article Free access | 10.1172/JCI105933
Hematology Research Laboratory of the Department of Medicine, Children's Hospital Medical Center, Boston, Massachusetts 02115
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115
Find articles by Kan, Y. in: JCI | PubMed | Google Scholar
Hematology Research Laboratory of the Department of Medicine, Children's Hospital Medical Center, Boston, Massachusetts 02115
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115
Find articles by Schwartz, E. in: JCI | PubMed | Google Scholar
Hematology Research Laboratory of the Department of Medicine, Children's Hospital Medical Center, Boston, Massachusetts 02115
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115
Find articles by Nathan, D. in: JCI | PubMed | Google Scholar
Published November 1, 1968 - More info
Whole blood samples of patients with various forms of alpha thalassemia including hemoglobin H disease, alpha thalassemia trait, and the “silent carrier” state were incubated with leucine-14C for definition of relative rates of production of alpha and beta chains in these disorders. The chains were separated by carboxymethyl cellulose chromatography in the presence of 8 M urea and dithiothreitol. Their absorptions at 280 mμ were determined and their radioactivities measured in a liquid scintillation spectrometer. After correction for differences in extinction coefficients, the specific activities of the widely separated alpha and beta peaks were determined. In 11 nonthalassemic individuals, the alpha/beta specific activity ratios were found to be 1.02±0.07; in nine patients with alpha thalassemia trait, 0.77±0.05; in six patients with hemoglobin H disease, 0.41±0.11; and in four “silent carriers,” 0.88 with a range of 0.82-0.95. The results show that in peripheral blood, alpha chain production relative to beta chain production is indeed limited in the alpha thalassemia syndromes. Hemoglobin H disease results from doubly heterozygous inheritance of a gene resulting in moderate depression of alpha chain production (alpha thalassemia trait) and a gene resulting in very mild depression of alpha chain production (the “silent carrier” syndrome.”