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Article

Mutational spectrum of delta-globin gene in the Portuguese population.

European journal of haematology - 1 Nov 2007

Morgado Ana, Picanço Isabel, Gomes Susana, Miranda Armandina, Coucelo Margarida, Seuanes Filomena, Seixas Maria Teresa, Romão Luísa, Faustino Paula

Abstract excerpt

The phenotype of increased Hb A2 typical of beta-thalassaemia (beta-thal) carriers can be reduced to normal or borderline values because of the co-inheritance of a delta-globin gene (HBD, MIM #142000) mutation, which may lead to misinterpretation of diagnostic results. To know the spectrum of delta-globin mutations in the Portuguese population we performed a mutational analysis of the delta-globin gene in a group...

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Source

Identifiers

PMID: 17916081
DOI: 10.1111/j.1600-0609.2007.00949.x

Genes

HBD
HBB

Variants

Provenance

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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