Two new hemoglobin variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T]

Hemoglobin. 2011;35(2):147-51. doi: 10.3109/03630269.2010.550795.

Abstract

We report two new hemoglobin (Hb) variants; one causing an impairment of the N-terminal glycation of the β-globin chain and the other a hematological phenotype of α-thalassemia (α-thal). The first variant is Hb Aix-les-Bains [β5(A2)Pro→Leu] and the second Hb Dubai [α122(H5)His→Leu (α2)]. These two new Hb variants were detected by chromatographic and electrophoretic methods and characterized by molecular studies. Hb Dubai gives an α-thalassemic phenotype and should be routinely detected for preventing severe Hb H disease in couples at-risk for α-thal.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Amino Acid Substitution / genetics*
  • Base Sequence
  • Codon
  • Female
  • Hemoglobin A2 / genetics*
  • Humans
  • Male
  • Middle Aged
  • Point Mutation / genetics*
  • alpha-Globins / genetics*
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics*
  • beta-Globins / genetics*

Substances

  • Codon
  • alpha-Globins
  • beta-Globins
  • Hemoglobin A2