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β-Thalassemia in the American Negro
Shlomo Friedman, … , Robert W. Hamilton, Elias Schwartz
Shlomo Friedman, … , Robert W. Hamilton, Elias Schwartz
Published June 1, 1973
Citation Information: J Clin Invest. 1973;52(6):1453-1459. https://doi.org/10.1172/JCI107319.
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Research Article

β-Thalassemia in the American Negro

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Abstract

In Italian patients with high hemoglobin A2 β-thalassemia trait, the synthesis of β-chains of adult hemoglobin in the peripheral blood is approximately one-half that of α-chains. In this study the relative rates of β- and α-chain synthesis were determined in 26 Negro heterozygotes and five homozygotes for β-thalassemia in six families. The β/α ratio of globin synthesis was decreased in only 15 heterozygotes, whereas in the other 11, β/α globin synthesis was in the normal range or was slightly increased. These unusual findings did not appear to be due to the presence of α-thalassemia or a hyperactive “normal” β-allele. This study demonstrates that the β/α ratio of globin synthesis in the peripheral blood is normal in some patients with β-thalassemia trait. In five Negro homozygotes with relatively mild clinical disease the β/α ratios were similar to those of Caucasians with Cooley's anemia. Further studies are needed to explore the relationship between normal synthesis ratios in many Negro heterozygotes and milder clinical disease in homozygotes in the same families.

Authors

Shlomo Friedman, Robert W. Hamilton, Elias Schwartz

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