β-Thalassemia in the American Negro

Shlomo Friedman; Robert W. Hamilton; Elias Schwartz

doi:10.1172/JCI107319

¹Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania School of Medicine, and the Cardeza Foundation for Hematologic Research, Jefferson Medical College, Philadelphia, Pennsylvania 19107

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Published in Volume 52, Issue 6 on June 1, 1973
J Clin Invest. 1973;52(6):1453–1459. https://doi.org/10.1172/JCI107319.
© 1973 The American Society for Clinical Investigation

Published June 1, 1973 - Version history

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.