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Article

Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22.

British journal of haematology - 1 Apr 2006

Pereira Francisco J C, do Céu Silva Maria, Picanço Isabel, Seixas Maria T, Ferrão Anabela, Faustino Paula, Romão Luísa

Abstract excerpt

We describe a novel alpha-thalassaemia determinant in a 3-year-old girl presenting a mild microcytic and hypochromic anaemia, and normal haemoglobin A2 level. Molecular studies revealed heterozygosity for a novel microdeletion (-C) at codon 22 of the alpha2-globin gene. As the frameshift mutation generates a premature translation termination codon at position 48/49, we investigated the effect of the nonsense...

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Identifiers

PMID: 16512835
DOI: 10.1111/j.1365-2141.2006.05971.x

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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