Article
Hb Monza: A novel extensive HBB duplication with preserved α-β subunit interaction and unstable hemoglobin phenotype.
Med (New York, N.Y.) - 11 Apr 2025
Civettini Ivan, Zappaterra Arianna, Corti Paola, Messina Amedeo, Aroldi Andrea, Biondi Andrea, Cavalca Fabrizio, Crippa Valentina, Crosti Francesca, Ferrari Giulia Maria, Malighetti Federica, Mologni Luca, Piperno Alberto, Ramazzotti Daniele, Scollo Chiara, Zambon Alfonso, Rossi Fabio, Gambacorti-Passerini Carlo
Abstract excerpt
BACKGROUND: Unstable hemoglobins are caused by single amino acid substitutions in the HBB gene, often affecting key histidine residues, leading to protein destabilization and hemolytic crises. In contrast, long HBB variants, exceeding 20 bp, are rare and associated with a β-thalassemia phenotype due to disrupted α-β chain interactions. We describe a family wherein four of six members carry a novel 23-amino-acid...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.