Hb Moncloa: A new variant of haemoglobin that interferes in the quantification of Hb A1c

Clin Biochem. 2017 Jun;50(9):521-524. doi: 10.1016/j.clinbiochem.2017.04.014. Epub 2017 Apr 19.

Abstract

Background: In most routine laboratories in Spain, the commonly used method for evaluating HbA1c is ion-exchange high performance liquid chromatography (HPLC). The presence of a variant of Hb may interfere with the quantification of HbA1c.

Aims: Here, we report a novel haemoglobin variant, named Hb Moncloa, which was found during a routine health check at the Hospital Clínico San Carlos in Moncloa (Madrid), Spain.

Methods and results: Molecular characterization of β gene identified a novel transversion mutation [β80(EF4)Asn>Ser; HBB:c.242A>G].

Conclusions: When there is no correlation between clinical, glycemic status and glycated haemoglobin of the patient, the chromatogram of HbA1c should be carefully checked to detect the possible presence of variants that cause interference in their measurement.

Keywords: Diabetes mellitus; HB variant; HPLC; Haemoglobinopathies.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution*
  • Female
  • Glycated Hemoglobin / metabolism*
  • Hemoglobins, Abnormal* / genetics
  • Hemoglobins, Abnormal* / metabolism
  • Humans
  • Middle Aged
  • Mutation, Missense*

Substances

  • Glycated Hemoglobin A
  • Hemoglobins, Abnormal
  • hemoglobin A1c protein, human