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- W757394705 abstract " Hb E (α 2 β 2 26 glu→lys ) is one of tne most common haemoglobin variants, found in an estimated 30 million people in South-East Asia. Homozygotes for Hb E are only mildly anaemic but compound heterozygotes with β thalassaemia have a severe clinical disorder which is the commonest form of symptomatic thalassaemia in S.E. Asia. The reasons for the high frequency of the S E gene and the severity of its interaction with β thalassaemia have never been adequately explained. We have studied eight Hb E homozygotes and nine heterozygotes all of S.E. Asian origin. In peripheral blood reticulocytes of homozygotes there was marked deficit of β E chain synthesis relative to α chain synthesis (α/β E ratio 2.0-3.3) and this was also observed to a lesser degree in the heterozygotes (1.23-2.19). There was no evidence that this was due to rapid destruction of the newly synthesised β E chains, nor that Hb E was preferentially destroyed during the lifespan of the red cell. Measurement of the ratios of α/β globin mRNA in the reticulocytes of these subjects showed E a deficit of 3 mRNA consistent with the decreased β E chain synthesis in these cells. Assessment of α/β mRNA ratios in bone marrow samples suggested normal transcription of β E mRNA and transport out of the nucleus but that once in the cytoplasm the β E mRNA was relatively unstable. The nature of the mRNA defect is unknown and could result either from the base substitution responsible for the amino acid change or from a second independent mutation in this gene. Thus the β E gene acts as a mild β thalassaemia gene, the defect acting at a pretranslational level. This explains why on interaction with β thalassaemia there is marked deficit of β chain production leading to a disorder of clinical importance." @default.
- W757394705 created "2016-06-24" @default.
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- W757394705 date "1981-01-01" @default.
- W757394705 modified "2023-09-23" @default.
- W757394705 title "The synthesis of haemoglobin E" @default.
- W757394705 hasPublicationYear "1981" @default.
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