PMID: 6166632Jul 1, 1981Paper

Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys)

The Journal of Clinical Investigation
E J BenzJ G Adams

Abstract

Inheritance of the gene for betaE-globin is associated with hypochromia and microcytosis, reminiscent of typical heterozygous beta-thalassemia. Patients with hemoglobin (Hb)E-beta-thalassemia exhibit clinical phenotypes of severe beta-thalassemia, a circumstance not encountered in other compound heterozygous states for structural beta-chain mutations and beta-thalassemia. We have analyzed the kinetics of globin synthesis and the levels of globin messenger (m) RNA accumulation in patients with Hb E-beta-thalassemia and Hb E trait. The initial rate of beta-globin synthesis (betaE/alpha=0.20-0.34) was less than expected on the basis of gene dosage, or comparable studies of other compound heterozygous states for beta-thalassemia and structurally abnormal beta-chains. betaE-globin synthesis was not only reduced during short-term incubations (1-5 min), but also remained relatively unchanged during long-term pulse or chase incubations up to 5h. Analysis of globin mRNA by cell-free translation and molecular hybridization confirmed that the unexpectedly low levels of betaE-globin synthesis were associated with comparable reduction in the levels of beta-globin mRNA. In Hb E-beta-thalassemia the betaA + betaE (alpha globin nRNA ratio obse...Continue Reading

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Citations

Nov 13, 2001·British Journal of Haematology·J B Porter
Nov 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·S E AntonarakisA Chakravarti
Apr 1, 1982·The Journal of Clinical Investigation·J TraegerW G Wood
Jul 27, 2007·Hematology·Bimal KishoreKaushik Majumdar
Feb 6, 2007·American Journal of Hematology·David MasielloDavid H K Chui
Oct 30, 2009·American Journal of Clinical Pathology·Daniel David MaisDavid F Keren
Feb 1, 1982·American Journal of Hematology·M H Steinberg, J G Adams
Jun 13, 2002·British Journal of Haematology·Ne WinAye-Aye Myint
Aug 1, 1987·American Journal of Hematology·N A Lachant
Apr 1, 1984·American Journal of Hematology·E DorléacJ Delaunay
Aug 1, 1991·Clinical Biochemistry·B H LubinK Kleman
Nov 1, 1988·The American Journal of the Medical Sciences·M H Steinberg

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