Hb grand junction (HBB: C.348-349delinsG; P.His117IlefsX42): A new hyperunstable hemoglobin variant

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

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)8-12
Number of pages5
Issue number1
StatePublished - 2014


  • Dominantly inherited β-thalassemia (β-thal)
  • Heinz body hemolytic anemia
  • Inclusion body
  • Unstable hemoglobin (Hb)

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical


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