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

Michael W. Kent, Jennifer Oliveira, James 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 journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)8-12
Number of pages5
JournalHemoglobin
Volume38
Issue number1
DOIs
StatePublished - Jan 27 2014

Fingerprint

Hemoglobins
Genes
Congenital Hemolytic Anemia
Hemoglobinopathies
Frameshift Mutation
Gene encoding
Thalassemia
Globins
Hispanic Americans
Codon
Phenotype
Mutation
Molecules

Keywords

  • 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

Cite this

Hb grand junction (HBB : C.348-349delinsG; P.His117IlefsX42): A new hyperunstable hemoglobin variant. / Kent, Michael W.; Oliveira, Jennifer; Hoyer, James; Swanson, Kenneth C.; Kluge, Michelle L.; Dawson, D. Brian; Liang, Xiayuan; Winkler, Tyler J.; Breaux, Charles W.; Lacount, Rachel; Silliman, Christopher C.

In: Hemoglobin, Vol. 38, No. 1, 27.01.2014, p. 8-12.

Research output: Contribution to journalArticle

Kent, MW, Oliveira, J, Hoyer, J, Swanson, KC, Kluge, ML, Dawson, DB, Liang, X, Winkler, TJ, Breaux, CW, Lacount, R & Silliman, CC 2014, 'Hb grand junction (HBB: C.348-349delinsG; P.His117IlefsX42): A new hyperunstable hemoglobin variant', Hemoglobin, vol. 38, no. 1, pp. 8-12. https://doi.org/10.3109/03630269.2013.853672
Kent, Michael W. ; Oliveira, Jennifer ; Hoyer, James ; Swanson, Kenneth C. ; Kluge, Michelle L. ; Dawson, D. Brian ; Liang, Xiayuan ; Winkler, Tyler J. ; Breaux, Charles W. ; Lacount, Rachel ; Silliman, Christopher C. / Hb grand junction (HBB : C.348-349delinsG; P.His117IlefsX42): A new hyperunstable hemoglobin variant. In: Hemoglobin. 2014 ; Vol. 38, No. 1. pp. 8-12.
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