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Article

Molecular mechanisms of a novel β-thalassaemia mutation due to the duplication of tetranucleotide 'AGCT' at the junction IVS-II/exon 3.

Annals of hematology - 1 Nov 2012

Musollino Gennaro, Mastrolonardo Gabriella, Prezioso Romeo, Pagano Leonilde, Primignani Paola, Carestia Clementina, Lacerra Giuseppina

Abstract excerpt

We report a new β-thalassaemia allele detected in a young Italian woman, suffering with mild non-haemolytic anaemia (Hb < 10 g/dL) and not showing Hb variant or Heinz bodies. The allele is characterised by duplication of tetranucleotide 'AG/CT' (+1344/+1347) including the invariant dinucleotide 'AG' of IVS-II acceptor splicing site and the first two nucleotides of codon 105. β-Globin complementary DNA (cDNA)...

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PMID: 22824996
DOI: 10.1007/s00277-012-1526-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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