PMID: 6165992Jan 1, 1981Paper

beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0

Proceedings of the National Academy of Sciences of the United States of America
J G AdamsR Iyer

Abstract

Hemoglobin Vicksburg was discovered in a 6-year-old Black boy who had been anemic since infancy. Examination of his hemolysate revealed 87.5% Hb F, 2.4% Hb A2, and 7.6% Hb Vicksburg, which had the electrophoretic and chromatographic properties of Hb A. Structural analysis of Hb Vicksburg demonstrated a deletion of leucine at beta 75(E19), a new variant. Hb Vicksburg was neither unstable nor subject to posttranslational degradation. The alpha/non-alpha biosynthetic ratio was 2.6. Because the proband appeared to be a mixed heterozygote for Hb Vicksburg and beta 0-thalassemia, Hb Vicksburg should have comprised the major portion of the hemolysate. Thus, Hb Vicksburg was synthesized at a rate considerably lower than would be expected on the basis of gene dosage. There was no reason to suspect abnormal translation of beta Vicksburg mRNA; in individuals with Hb St. Antoine (beta 74 and beta 75 deleted), the abnormal hemoglobin comprised 25% of the hemolysate in the simple heterozygote yet was unstable. Deletion of beta 75, therefore, would not in itself appear to lead to diminished synthesis. There was a profound deficit of beta Vicksburg mRNA when measured by liquid hybridization analysis with beta cDNA. The most plausible explanati...Continue Reading

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Citations

Sep 25, 1982·Nucleic Acids Research·A J KinniburghJ Ross
Feb 1, 1982·American Journal of Hematology·M H Steinberg, J G Adams
Feb 1, 1986·American Journal of Hematology·P FessasA Karaklis
Nov 1, 1987·American Journal of Hematology·F BakloutiJ Delaunay
Sep 1, 1991·The American Journal of Physiology·J G AdamsM H Steinberg
Nov 1, 1988·The American Journal of the Medical Sciences·M H Steinberg

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