Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant

Hemoglobin. 2016 Sep;40(5):345-348. doi: 10.1080/03630269.2016.1209214. Epub 2016 Sep 14.

Abstract

We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)Leu→His (α2); HBA2: c.275T > A; p.Leu92His (NM_000517.4)]; this codon was previously numbered 91 on the α2-globin gene that was discovered following routine Hb A1c testing on a 65-year-old female of Cypriot origin. The band, seen by high performance liquid chromatography (HPLC) but not capillary zone electrophoresis (CZE), was confirmed as a hitherto undescribed a chain variant, that we have named Hb Kalavasos for the Cypriot village of family origin of the proband.

Keywords: Hb A1c; Hb Kalavasos; capillary zone electrophoresis; hemoglobin (Hb) variant; high performance liquid chromatography; α Hemoglobin chain.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Chromatography, High Pressure Liquid
  • Codon
  • Female
  • Glycated Hemoglobin / analysis
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • alpha-Globins / genetics*

Substances

  • Codon
  • Glycated Hemoglobin A
  • Hemoglobins, Abnormal
  • alpha-Globins
  • hemoglobin Kalavasos