Hb broomhill [α1 or α2 114(GH2) pro > ala; HBA1 or HBA2:c.343C > G]: a rare Hb variant found in a diabetic chinese individual

Scand J Clin Lab Invest. 2020 Nov;80(7):606-609. doi: 10.1080/00365513.2020.1804609. Epub 2020 Aug 12.

Abstract

We report a clinically silent hemoglobin (Hb) variant, Hb Broomhill [α1 or α2 114(GH2) Pro > Ala;HBA1 or HBA2:c.343C > G] in a diabetic Chinese man. The Hb fractions of the subject were analyzed using various chromatographic and electrophoretic techniques. The glycated hemoglobin (HbA1c) levels measured using cation-exchange high-performance liquid chromatography (CE-HPLC) and the boronate affinity method showed nearly identical results. Analysis of the chromatogram of the CE-HPLC revealed an abnormal shoulder peak that appeared towards the end of the elution profile. Though the capillary electrophoresis method did not interpret the results, a manual examination revealed an abnormal shoulder on the HbA0 peak. Similarly, the electropherogram of the capillary zone electrophoresis also had an abnormal shoulder on the HbA peak. A missense mutation specific to the Hb Broomhill variant was found using Sanger sequencing.

Keywords: Hb Broomhill; HbA1c; capillary electrophoresis; cation-exchange high-performance liquid chromatography; hemoglobin variant.

MeSH terms

  • Aged
  • Asian People*
  • Base Sequence
  • Chromatography, High Pressure Liquid
  • Diabetes Mellitus / blood*
  • Electrophoresis, Capillary
  • Glycated Hemoglobin / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Mutation / genetics*

Substances

  • Glycated Hemoglobin A
  • Hemoglobins, Abnormal