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Hemoglobin Himeji and inconsistent hemoglobin A1c values: a case report.

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Journal of Medical Case Reports
|July 27, 2017
PubMed
Summary

A rare hemoglobinopathy, hemoglobin Himeji, caused a discrepancy in diabetes monitoring. This case highlights the need to consider hemoglobin variants when interpreting hemoglobin A1c results for accurate diabetes management.

Keywords:
Diabetes mellitusHemoglobin A1cHemoglobin HimejiHemoglobinopathiesMutations

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Area of Science:

  • Endocrinology
  • Genetics
  • Clinical Chemistry

Background:

  • Hemoglobin A1c (HbA1c) is a key marker for diabetes glycemic control and complication risk.
  • Hemoglobin variants can interfere with HbA1c accuracy, leading to misinterpretation.
  • This case involves a patient with type 2 diabetes and a rare hemoglobin variant.

Observation:

  • A 76-year-old woman with type 2 diabetes presented with a fasting plasma glucose of 190 mg/dL and an HbA1c of 4.1%.
  • Historical data showed consistently low HbA1c (<5%) despite fluctuating high fasting plasma glucose (130-250 mg/dL) over 4 years.
  • Hemoglobin analysis revealed 32.8% abnormal hemoglobin, identified by genetic sequencing as a heterozygous mutation for hemoglobin Himeji (c.422C>A; p.Ala141Asp).

Findings:

  • Hemoglobin Himeji, a clinically silent and rare hemoglobinopathy, was identified as the cause of the discrepancy.
  • The patient's family members did not carry this specific hemoglobin variant.
  • The presence of hemoglobin Himeji falsely lowered the HbA1c results.

Implications:

  • Accurate glycemic control assessment is crucial for diabetes management and preventing complications.
  • Healthcare professionals must be aware of factors that interfere with HbA1c testing, such as hemoglobin variants.
  • Alternative methods like fructosamine or glycated serum albumin testing are recommended for patients with hemoglobin Himeji to ensure proper diabetes monitoring.