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Updated: Jul 8, 2025

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Molecular Characterization of Haemoglobin E.

Sara Ejaz1, Ghulam Mustafa1, Shagufta Khaliq2

  • 1Department of Haematology, University of Health Sciences, Lahore, Pakistan.

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|December 12, 2023
PubMed
Summary

This study detected frequently missed Hemoglobin E mutations in patients with high Hemoglobin A2 levels using molecular methods. These findings highlight the need for advanced molecular diagnostics to accurately identify hemoglobinopathies.

Keywords:
Haemoglobin E, Beta-thalassemia, High performance liquid chromatography, Restriction fragment length polymorphism.

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Area of Science:

  • Hematology
  • Molecular Biology
  • Genetic Diagnostics

Background:

  • High performance liquid chromatography (HPLC) can misinterpret co-eluting Hemoglobin E (HbE) with Hemoglobin A2 (HbA2).
  • Elevated HbA2 levels (>7%) may indicate underlying hemoglobinopathies requiring further investigation.
  • Accurate diagnosis of hemoglobin variants is crucial for genetic counseling and patient management.

Purpose of the Study:

  • To identify mutations in patients presenting with elevated Hemoglobin A2 levels (>7%) detected by HPLC.
  • To investigate the prevalence of Hemoglobin E mutations in a cohort with high HbA2.
  • To evaluate the utility of molecular techniques for confirming HbE in cases with potential HPLC misdiagnosis.

Main Methods:

  • A cross-sectional study involving 39 patients with HbA2 ≥7% was conducted.
  • Samples underwent complete blood count and HPLC analysis.
  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using Mnl1 was performed to detect HbE mutations, with Sanger sequencing for confirmation.

Main Results:

  • Of 39 patients, 23 (59%) were found to have the heterozygous HbE mutation.
  • A significant proportion (74.4%) had a thalassemia family history.
  • Median HbA2 levels were 26.6%, indicating a substantial elevation.

Conclusions:

  • Hemoglobin E mutations are frequently missed or undiagnosed in individuals with HbA2 levels ≥7% due to co-elution in HPLC.
  • Molecular methods like PCR-RFLP are essential for accurate detection of HbE in these cases.
  • This study underscores the importance of molecular diagnostics for resolving ambiguous HPLC results in hemoglobinopathy screening.