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. 1968 Nov;47(11):2515–2522. doi: 10.1172/JCI105933

Globin chain synthesis in the alpha thalassemia syndromes

Yuet Wai Kan 1,2, Elias Schwartz 1,2, David G Nathan 1,2
PMCID: PMC297416  PMID: 5775343

Abstract

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.”

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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