A case of hemoglobin Hiroshima (β146 histidine to aspartic acid) with compensatory erythremia and undetectable HbA₁c

Int J Hematol. 2012 Jun;95(6):697-701. doi: 10.1007/s12185-012-1066-1. Epub 2012 Apr 8.

Abstract

Hemoglobin (Hb) Hiroshima is an Hb variant that travels rapidly on electrophoresis and shows a fourfold increase in oxygen affinity and a decreased Bohr effect. We encountered a 40-year-old male patient with erythremia and an undetectable HbA(1c) level. The presence of an abnormal hemoglobin molecule was suggested by the results of high-performance liquid chromatography analysis. Subsequent gene analysis by direct sequencing confirmed Hb Hiroshima (β146 histidine → aspartic acid). Caution should be exercised when diagnosing erythremia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Base Sequence
  • Glycated Hemoglobin / metabolism*
  • Hemoglobins, Abnormal / analysis
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation
  • Polycythemia Vera / diagnosis
  • Polycythemia Vera / genetics*

Substances

  • Glycated Hemoglobin A
  • Hemoglobins, Abnormal