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Article

Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant.

Hemoglobin - 1 Jan 2014

Kent Michael W, Oliveira Jennifer L, Hoyer James D, Swanson Kenneth C, Kluge Michelle L, Dawson D Brian, Liang Xiayuan, Winkler Tyler J, Breaux Charles W, LaCount Rachel, Silliman Christopher C

Abstract excerpt

Hyperunstable hemoglobinopathy (HUH) [dominantly inherited β-thalassemia (β-thal)] is a relatively rare form of congenital hemolytic anemia in which mutations occur in the genes encoding for α and β chains, or both chains of the hemoglobin (Hb) molecule. We describe two Hispanic adolescents with a new unstable Hb variant (HBB: c.348_349delinsG; p.His117IlefsX42), resulting from a frameshift mutation at codons...

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Identifiers

PMID: 24432801
DOI: 10.3109/03630269.2013.853672

Genes

HBB

Variants

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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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Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant.PMID 24432801Read ↗

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