Hb Treviso [α91(FG3)Leu→Phe (α2)]: a new slightly unstable hemoglobin variant with moderately decreased oxygen affinity

Hemoglobin. 2013;37(2):107-11. doi: 10.3109/03630269.2012.759961. Epub 2013 Jan 25.

Abstract

We report a new hemoglobin (Hb) variant, found in a North-East Italian family living in the city of Treviso. The proband, a non anemic 60-year-old male with a history of chronic rhinitis, allergy to Parietaria and suspected obstructive sleep apnea syndrome, was referred for blood gas analysis. Determination of the oxygen affinity revealed a p50 of 32.5 mmHg (control 27.5 mmHg) indicating a moderate decrease in oxygen affinity. An abnormal pattern compatible with an α Hb variant was observed on high performance liquid chromatography (HPLC); direct sequencing revealed a transition at codon 91 of the α2 gene (HBA2: c.274C>T) changing leucine into phenylalanine. Characterization and phenotype studies are reported.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • Hemoglobin A2 / genetics*
  • Hemoglobin A2 / metabolism
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Oxygen / metabolism

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Treviso
  • Hemoglobin A2
  • Oxygen