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Open Access 15-06-2024 | Type 2 Diabetes | Case report

An incidental finding of a hemoglobin E variant in a diabetic patient with an abnormal glycated hemoglobin level: a case report

Authors: Rashmi Karki, Samir Lamichhane, Runa Jha, Rekha Manandhar

Published in: Journal of Medical Case Reports | Issue 1/2024

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Abstract

Background

Glycated hemoglobin is a well-known marker for evaluating long-term glycemic control. However, the accuracy of glycated hemoglobin measurement can be affected by the presence of hemoglobin variants, which makes the determination and interpretation of glycated hemoglobin values in terms of glycemic control not only difficult but also misleading. Here we present the first ever case of a patient with type 2 diabetes with hemoglobin E from Nepal, diagnosed incidentally because of spurious glycated hemoglobin levels.

Case presentation

A 45-year-old Hindu Mongolian female with a history of type 2 diabetes for around 9 years but not very compliant with follow-ups was referred to our facility for plasma fasting and postprandial blood glucose levels and glycated hemoglobin. Fasting and postprandial blood sugars were found to be high. A consistent very low glycated hemoglobin by two different high-performance liquid chromatography (HPLC) methods compelled us to call the patient for a detailed clinical history and for the records of investigations done in the past. The patient has been a known case of type 2 diabetes for around 9 years and presented irregularly for follow-up visits. Around 4 years ago, she presented to a healthcare facility with fatigue, severe headaches, pain in the abdomen, discomfort, and dizziness for a couple of months, where she was shown to have high blood glucose. She was referred to a tertiary-level hospital in Kathmandu, where she was prescribed metformin 500 mg once daily (OD). Due to her abnormal hemoglobin A1c reports, she was then sent to the National Public Health Laboratory for repeat investigations. Her blood and urine investigations were sent. Complete blood count findings revealed high red blood cell and white blood cell counts, a low mean corpuscular volume, and a high red cell distribution width-coefficient of variation. Other parameters, including serum electrolytes, renal function tests, liver function tests, and urine routine examinations, were within normal limits. A peripheral blood smear revealed microcytic hypochromic red cells with some target cells. Hemoglobin electrophoresis showed a very high percentage of hemoglobin E, a very low percentage of hemoglobin A2, and normal proportions of hemoglobin A and hemoglobin F. A diagnosis of homozygous hemoglobin E was made, and family screening was advised.

Conclusions

Clinicians should be aware of the limitations of glycated hemoglobin estimation by ion exchange high-performance liquid chromatography in patients with hemoglobin E and other hemoglobin variants. If the clinical impression and glycated hemoglobin test results do not match, glycated hemoglobin values should be determined with a second method based on a different principle, and glycemic status should be confirmed through alternative investigations, preferably those that are not influenced by the presence of hemoglobin variants (for example, boronate affinity chromatography, fructosamine test, glycated albumin test, the oral glucose tolerance test, continuous glucose monitoring, etc.). Consistent or even doubtful results should also raise the suspicion of a hemoglobin variant, which should be confirmed through further evaluation and investigations.
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Metadata
Title
An incidental finding of a hemoglobin E variant in a diabetic patient with an abnormal glycated hemoglobin level: a case report
Authors
Rashmi Karki
Samir Lamichhane
Runa Jha
Rekha Manandhar
Publication date
15-06-2024
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2024
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-024-04518-y

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