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Article

Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element.

Blood - 1 May 1991

Kulozik A E, Bellan-Koch A, Bail S, Kohne E, Kleihauer E

Abstract excerpt

A patient with homozygous beta thalassemia of German/Italian descent was found to be doubly heterozygous for the common IVS1-110 G----A mutation of the beta globin gene and for a novel C----T mutation of the proximal CACCC-box of the beta globin gene promoter at position -87 relative to the transcription start site (cap). Transcription analysis in an HeLa cell transfection assay indicated a 45% to 51% residual...

Topics

Adult
Base Sequence
Genotype
Globins
Haplotypes
HeLa Cells
Humans
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Promoter Regions, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA, Messenger

Thalassemia

Transcription, Genetic

Transfection

Source

Identifiers

PMID: 2018842

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2018842-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element.PMID 2018842Read ↗

Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter elementSemantic proximity Read ↗

A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region.Semantic proximity Read ↗

Promoter mutations producing mild beta-thalassaemia in the Italian population.Semantic proximity Read ↗

A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF.Semantic proximity Read ↗

Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene.Semantic proximity Read ↗

beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at +22 relative to the beta-globin cap site.Semantic proximity Read ↗

Transcriptional potential of the gamma-globin gene is dependent on the CACCC box in a developmental stage-specific manner.Semantic proximity Read ↗

High levels of transcription driven by a 400 bp segment of the human G6PD promoter.Semantic proximity Read ↗

Functional profile of the human fetal gamma-globin gene upstream promoter region.Semantic proximity Read ↗

Beta-thalassemia intermedia with exceptionally high hemoglobin A2: relationship to mutations in the beta-gene promoter.Semantic proximity Read ↗

The -158 (C-->T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin.Semantic proximity Read ↗

Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.Semantic proximity Read ↗

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