A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T > A (Leu→Gln)]

Hemoglobin. 2023 Nov;47(4):140-144. doi: 10.1080/03630269.2023.2262391. Epub 2023 Nov 3.

Abstract

We present a new hemoglobin variant, Hb Raklev, characterized by the substitution of leucine with glutamine at position 75 in the β-globin chain. This variant was discovered inadvertently during an HbA1c evaluation using high performance liquid chromatography in a symptomless 54-year-old Caucasian woman, with the same variant also identified in her 16-year-old daughter. Purification of the hemoglobin revealed possibly diminished 2,3-bisphosphoglycerate (2,3-BPG) sensitivity, which may result in heightened oxygen affinity. Notably, two variants have been previously documented at this location: the unstable Hb Atlanta and the high-affinity Hb Pasadena.

Keywords: Hemoglobin; hemoglobin variant; high affinity hemoglobin; high performance liquid chromatography; oxygen affinity.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromatography, High Pressure Liquid
  • Female
  • Glutamine
  • Hemoglobins, Abnormal* / chemistry
  • Hemoglobins, Abnormal* / genetics
  • Humans
  • Leucine
  • Middle Aged
  • beta-Globins* / chemistry
  • beta-Globins* / genetics

Substances

  • beta-Globins
  • Leucine
  • Glutamine
  • Hemoglobins, Abnormal