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Article

The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population.

British journal of haematology - 1 Apr 1990

Ristaldi M S, Murru S, Loudianos G, Casula L, Porcu S, Pigheddu D, Fanni B, Sciarratta G V, Agosti S, Parodi M I

Abstract excerpt

This paper describes four families of Italian descent in each of which the propositus had the clinical phenotype of thalassaemia intermedia, resulting from the compound heterozygous state for high HbA2 beta thalassaemia and type I silent beta thalassaemia. Direct sequencing on amplified DNA and/or oligonucleotide analysis detected, in all families but one, the compound heterozygous state for codon 39 nonsense...

Topics

Child
Female
Gene Amplification
Globins
Heterozygote
Humans
Italy
Male
Mutation
Pedigree
Promoter Regions, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thalassemia

Source

Identifiers

PMID: 2346726
DOI: 10.1111/j.1365-2141.1990.tb06338.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2346726-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Click a neighbor to travelStep 1 · 12 closest

The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population.PMID 2346726Read ↗

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

Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes.Semantic proximity Read ↗

A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family.Semantic proximity Read ↗

"Silent" β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A2.Semantic proximity Read ↗

Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families.Semantic proximity Read ↗

A novel mutation of -73(A-->T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia.Semantic proximity Read ↗

Heterozygous beta-thalassemia with thalassemia intermedia phenotype.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 ↗

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population.Semantic proximity Read ↗

Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.Semantic proximity Read ↗

Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations.Semantic proximity Read ↗

Phenotype of mutations in the promoter region of the β-globin gene.Semantic proximity Read ↗

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