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HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene.

Hemoglobin - 1 Jan 2000

Vinciguerra Margherita, Cannata Monica, Cassarà Filippo, Passarello Cristina, Leto Filippo, Calvaruso Giuseppina, Renda Disma, Maggio Aurelio, Giambona Antonino

Abstract excerpt

We report two very rare changes in the second intron of the HBB gene, a substitution at nucleotide (nt) 726 [IVS-II-726 (A>G) (β+), NM_000518, HBB: c.316-125A>G] and a deletion of a cytosine at nt 809 [IVS-II-809 (-C) (β), NM_000518, HBB: c.316-42delC] identified during the screening program for hemoglobinopathies in the resident Sicilian population. The purpose of this study was to evaluate the clinical...

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Identifiers

PMID: 29171316
DOI: 10.1080/03630269.2017.1397014

Genes

HBB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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