title: Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant.
abstract: 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 115/116 of the β-globin gene. Both patients also have a 3.7 kb deletion on one α gene, leading to a decreased imbalance between α and β chain formation, and subsequently a milder phenotype than that seen in other hyperunstable Hb variants.
authors.affiliation: Department of Research, Bonfils Blood Center , Denver, Colorado , USA.
authors.forename: Michael W
authors.initials: MW
authors.lastname: Kent
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Oliveira
authors.forename: James D
authors.initials: JD
authors.lastname: Hoyer
authors.forename: Kenneth C
authors.initials: KC
authors.lastname: Swanson
authors.forename: Michelle L
authors.initials: ML
authors.lastname: Kluge
authors.forename: D Brian
authors.initials: DB
authors.lastname: Dawson
authors.forename: Xiayuan
authors.initials: X
authors.lastname: Liang
authors.forename: Tyler J
authors.initials: TJ
authors.lastname: Winkler
authors.forename: Charles W
authors.initials: CW
authors.lastname: Breaux
authors.forename: Rachel
authors.initials: R
authors.lastname: LaCount
authors.forename: Christopher C
authors.initials: CC
authors.lastname: Silliman
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D003062:Codon; D004913:Erythrocytes, Abnormal; D006366:Heinz Bodies; D006453:Hemoglobinopathies / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D055550:Protein Stability; D035781:Siblings; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins