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Article

Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.

Genes - 31 Jul 2020

Cardiero Giovanna, Musollino Gennaro, Friscia Maria Grazia, Testa Rosario, Virruso Lucrezia, Di Girgenti Caterina, Caldora Mercedes, Colella Bisogno Rosario, Gaudiano Carlo, Manco Giuseppe, Lacerra Giuseppina

Abstract excerpt

We identified two unstable variants in the third exon of α-globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>T), and Hb Caserta (HBA2:c.79G>A) in cis to Hb Sun Prairie (HBA2:c.391G>C), also named Hb Southern Italy. These mutations occurred in the H helix of the α-globin that is involved in heme contacting, specific recognition of α-hemoglobin-stabilizing protein (AHSP), and α1β1 interactions. The carriers showed...

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PMID: 32751969
DOI: 10.3390/genes11080870
PMCID: PMC7466077

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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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