Defective synthesis of hbe is due to reduced levels of βe mrna

ABSTRACT Haemoglobin E (_α_2_β_226GlU→Lys) is one of the commonest haemoglobin variants. There are an estimated 30 million carriers of the _β_E gene in South-East Asia, where they comprise

more than 50% of the population in some areas1,2; however, the reasons for this high frequency have never been adequately explained. Homozygotes for HbE may be mildly anaemic, but they do

not have any clinical disability3,4. However, individuals heterozygous for both _β_E and _β_ thalassaemia (HbE/_β_ thalassaemia) have a severe clinical disorder which in some cases may

approach that seen in homozygous _β_ thalassaemia3,5,6 and which is by far the commonest form of symptomatic thalassaemia in the Indian subcontinent and South-East Asia. Haemoglobin E is the

only common structural variant which interacts with _β_ thalassaemia to produce such a severe disorder and the underlying mechanism of the interaction is not known. We have studied several

homozygotes and heterozygotes for HbE and show here that the _β_E chain is inefficiently synthesized and produces the phenotype of a mild form of _β_ thalassaemia; hence, when inherited

together with _β_ thalassaemia it causes a marked _β_-chain deficit. Furthermore, the mechanism for the defective production of _β_E chains seems to be a reduction of _β_E mRNA, a most

unexpected finding in a disorder caused by a single amino acid substitution and presumably by a single nucleotide change in the DNA of the _β_ globin gene. Access through your institution

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OTHERS ABNORMAL HEMOGLOBIN ANTI-LEPORE HONG KONG COMPOUND WITH Β0-THALASSEMIA AMELIORATE THALASSEMIA SEVERITY WHEN CO-INHERITED WITH Α-THALASSEMIA Article Open access 20 March 2024

SIGNIFICANCE OF BORDERLINE HBA2 LEVELS IN Β THALASSEMIA CARRIER SCREENING Article Open access 30 March 2022 RARE COINHERITANCE OF HEMOGLOBIN VANCLEAVE WITH SEVERE BETA-THALASSEMIA MUTATION

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and Tropical Medicine Research Unit, University of Oxford, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, OX3 9DU, UK Joanne Traeger, W. G. Wood, J. B. Clegg 

& D. J. Weatherall * Division of Haematology, Siriraj Hospital Bangkok, Thailand P. Wasi Authors * Joanne Traeger View author publications You can also search for this author inPubMed 

Google Scholar * W. G. Wood View author publications You can also search for this author inPubMed Google Scholar * J. B. Clegg View author publications You can also search for this author

inPubMed Google Scholar * D. J. Weatherall View author publications You can also search for this author inPubMed Google Scholar * P. Wasi View author publications You can also search for

this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Traeger, J., Wood, W., Clegg, J. _et al._ Defective synthesis of HbE

is due to reduced levels of _β_E mRNA. _Nature_ 288, 497–499 (1980). https://doi.org/10.1038/288497a0 Download citation * Received: 05 August 1980 * Accepted: 27 October 1980 * Issue Date:

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