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

Hemoglobin. 2014;38(1):8-12. doi: 10.3109/03630269.2013.853672.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Codon
  • Erythrocytes, Abnormal
  • Heinz Bodies
  • Hemoglobinopathies / blood*
  • Hemoglobinopathies / diagnosis
  • Hemoglobinopathies / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Protein Stability
  • Siblings
  • alpha-Globins / genetics
  • beta-Globins / genetics

Substances

  • Codon
  • Hemoglobins, Abnormal
  • alpha-Globins
  • beta-Globins