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Hemoglobin01:24

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Updated: Jul 29, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
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Hemoglobin variant in disguise.

V Higgins1, L MacNeil2, I Sosova3

  • 1DynaLIFE Medical Labs, Edmonton, AB, Canada; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada.

Clinical Biochemistry
|May 26, 2023
PubMed
Summary
This summary is machine-generated.

A rare hemoglobin variant, Hb Olupona, was misidentified as HbS trait due to limitations in standard testing methods. Molecular genetic analysis confirmed compound heterozygosity, highlighting the need for definitive testing when unusual results arise.

Keywords:
Hb OluponaHemoglobin variantHemoglobinopathySickle cell trait

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Area of Science:

  • Hematology
  • Clinical Genetics
  • Biochemistry

Background:

  • Hemoglobinopathies encompass a spectrum of genetic disorders affecting hemoglobin (Hb) synthesis or structure.
  • Over 1000 identified Hb variants range from clinically silent to severe, necessitating accurate diagnostic methods.
  • Phenotypic analysis using electrophoresis and chromatography is common, but molecular genetic testing offers definitive identification.

Observation:

  • A 23-month-old male presented with electrophoretic results suggestive of HbS trait, including HbA (39.4%) and HbS (48.5%).
  • Unusual findings included a higher-than-expected HbS percentage and slightly elevated HbF and HbA2 levels without typical thalassemic indices.
  • The patient remained clinically asymptomatic, thriving without any hemoglobinopathy-related complications.

Findings:

  • Molecular genetic analysis revealed compound heterozygosity for HbS and the extremely rare beta-chain variant, Hb Olupona.
  • Hb Olupona mimics HbA on standard phenotypic analyses (capillary electrophoresis, acid/alkaline gel electrophoresis, HPLC), leading to misidentification.
  • The fractional concentration of HbS was higher than typically observed in HbS trait due to the presence of Hb Olupona.

Implications:

  • Unusual fractional concentrations of Hb variants warrant advanced diagnostic approaches like mass spectrometry or molecular genetic testing.
  • Accurate identification of rare Hb variants is crucial for understanding disease mechanisms and genetic counseling.
  • While Hb Olupona appears clinically insignificant, definitive molecular diagnosis prevents misclassification and ensures appropriate patient management.