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A rare hemoglobin variant, Hb Belliard.

Stacey Murthy1, Raul Benavides1

  • 1Department of Pathology, Baylor University Medical Center at Dallas, Texas.

Proceedings (Baylor University. Medical Center)
|April 14, 2017
PubMed
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This study reports a rare hemoglobin variant, Hb Belliard, identified in a patient via capillary electrophoresis and DNA sequencing. While currently considered insignificant, further case reporting is needed to determine the clinical significance of rare hemoglobin variants.

Area of Science:

  • Hematology
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Numerous hemoglobin variants exist, but most lack significant clinical impact, unlike sickle cell disease.
  • Advancements in electrophoresis and DNA sequencing facilitate the identification of rare hemoglobin variants.
  • The clinical significance of newly identified variants often remains undetermined due to a lack of case reporting.

Observation:

  • A rare hemoglobin variant, designated Hb Belliard, was detected in a 68-year-old Indian immigrant.
  • The patient presented with elevated hemoglobin levels and a distinct peak on capillary electrophoresis.
  • Subsequent DNA sequencing confirmed the presence of the Hb Belliard variant.

Findings:

  • Hb Belliard was identified through advanced diagnostic techniques including capillary electrophoresis and DNA sequencing.

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  • The variant was found in an individual with elevated hemoglobin, suggesting a potential, though currently unconfirmed, association.
  • Current understanding suggests Hb Belliard is a clinically insignificant hemoglobin variant.

    • Implications:

    • This case highlights the importance of detailed case reporting for understanding the clinical significance of rare hemoglobin variants.
    • Continued identification and reporting of rare variants are crucial for advancing hematological knowledge.
    • Further research may elucidate the true clinical impact, if any, of Hb Belliard and similar variants.