Abstract
The Lepore and anti-Lepore hemoglobins probably arose as a result of non-homologous crossing over of globin β and δ genes, with the formation of gene hybrids. Lepore (δβ) variants produce a thalassemia-like disorder, whereas individuals with anti-Lepore (βδ) hemoglobin typically are hematologically normal. Hb Lincoln Park is a (βδ) variant representing a crossover between β 22 and δ 50; in addition valine-137, in the δ segment, is deleted. This variant was found in a 3 year old boy, his mother, and an uncle. None of these individuals had anemia nor microcytosis, but their reticulocyte counts were elevated (3.6 - 4.9%). Globin synthesis by peripheral blood reticulocytes was studied by determination of L-leucine-14C incorporation in vitro. The rate of synthesis of the βδ chain was significantly less than that of the normal β chain and was similar to that of the δ chain. Labeled α globin was recovered in early-emerging DEAE-Sephadex fractions, suggesting the presence of significant quantities of free α-chains. The total α/non-α globin synthesis ratio was 1.4 to 1.5, indicating a substantial excess of a chain synthesis. These findings may account for the elevated reticulocyte counts, and suggest that globin synthesis is unbalanced in this condition in the absence of a hematologic picture of thalassemia.
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Honig, G., Tremaine, L., Mason, R. et al. 611 UNBALANCED GLOBIN SYNTHESIS IN ANTI-LEPORE HEMOGLOBIN Oil ERYTHROID CELLS. Pediatr Res 12 (Suppl 4), 465 (1978). https://doi.org/10.1203/00006450-197804001-00616
Issue date:
DOI: https://doi.org/10.1203/00006450-197804001-00616
