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Related Concept Videos

Hemoglobin01:24

Hemoglobin

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Hemoglobin is a globular protein made up of four subunits. Two of these subunits are alpha chains, and the other two are beta chains. Each subunit contains a molecule of heme, which has an iron atom and can bind to oxygen. When an oxygen molecule binds to one heme group, it changes the shape of hemoglobin, making it easier for the other heme groups to bind oxygen as well.
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Related Experiment Video

Updated: Jul 12, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
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The Hemoglobin Wayne Variant and Association With Falsely Elevated HbA1c.

Neha Mulpuri1, Ananda Bryant2, Daryoush Shahin2

  • 1UT Southwestern Medical Center, Department of Internal Medicine, Dallas, TX 75390, USA.

JCEM Case Reports
|November 1, 2023
PubMed
Summary

The rare Hemoglobin Wayne variant can cause falsely high glycated hemoglobin A1c (HbA1c) test results, leading to misdiagnosis of diabetes mellitus. Clinical correlation and further testing are crucial for accurate diagnosis.

Keywords:
hemoglobin A1chemoglobinopathiestype 2 diabetes mellitus

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Last Updated: Jul 12, 2025

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Area of Science:

  • Clinical Chemistry
  • Hematology
  • Genetics

Background:

  • Glycated hemoglobin A1c (HbA1c) is a key diagnostic marker for diabetes mellitus (DM).
  • Certain hemoglobin variants can interfere with HbA1c assays, leading to inaccurate results.
  • Hemoglobin Wayne (Hb Wayne) is a rare, clinically silent hemoglobinopathy.

Observation:

  • Three patients presented with elevated HbA1c levels inconsistent with other glycemic parameters.
  • These patients were initially misdiagnosed with type 2 DM based on spuriously high HbA1c values.
  • Hemoglobin electrophoresis identified the Hb Wayne variant in all three individuals.

Findings:

  • The Hb Wayne variant can lead to falsely elevated HbA1c readings in euglycemic individuals.
  • Discordance between HbA1c and other glycemic markers (blood glucose, OGTT, fructosamine) indicated the presence of the variant.
  • Accurate identification of Hb Wayne prevented unnecessary diabetes treatment.

Implications:

  • Highlights the importance of considering hemoglobinopathies when interpreting HbA1c results.
  • Emphasizes the necessity of clinical correlation and further diagnostic testing when HbA1c values are discordant with the clinical picture.
  • Underscores the limitations of HbA1c assays in the presence of specific genetic variants.