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Article

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

Human genetics - 1 Jul 1992

Faustino P, Osório-Almeida L, Barbot J, Espírito-Santo D, Gonçalves J, Romão L, Martins M C, Marques M M, Lavinha J

Abstract excerpt

In order to delineate the spectrum and the relative abundance of beta-globin gene defects causing thalassaemia in the Portuguese population, a representative sample was analysed including 51 beta-thalassaemia carriers along with 26 patients representing different clinical phenotypes. Seven mutations were identified, four of which [codon 39 (C----T), 39%; intervening sequence (IVS) 1 nucleotide (nt) 1 (G----A),...

Topics

Chromosome Aberrations
Chromosome Inversion
Codon
Exons
Female
Genetic Variation
Genotype
Globins
Haplotypes
Humans
Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Portugal

Promoter Regions, Genetic

RNA Splicing

Thalassemia

Source

Identifiers

PMID: 1634236
DOI: 10.1007/BF00219188

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1634236-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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