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Related Experiment Video

Updated: Aug 14, 2025

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Rare Combinational Hemoglobinopathies.

Ammar Husan1, Sam N Amarasinghe2, Andee Fontenot2

  • 1Family Medicine, Louisiana State University Health Sciences Shreveport, Shreveport, USA.

Cureus
|January 11, 2023
PubMed
Summary

This study reports a rare case of combined Hemoglobin Korle-Bu, Hemoglobin D-Punjab, and sickle cell trait in a young patient with low hemoglobin levels.

Keywords:
anemiad-punjabhemoglobinopathykorle-busickle cell

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Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Hemoglobinopathies encompass genetic disorders affecting globin chain synthesis.
  • Sickle cell disease is prevalent, contrasting with rare variants like Hb Arab, Lepore, Korle-Bu, Kansas, D-Punjab, and Hasharon.

Observation:

  • A young patient presented with unexplained anemia (low hemoglobin).
  • Diagnostic investigations revealed a complex hemoglobinopathy.

Findings:

  • The patient was diagnosed with a rare co-inheritance of Hemoglobin Korle-Bu, Hemoglobin D-Punjab, and sickle cell trait.
  • This combination represents an uncommon presentation of hemoglobinopathies.

Implications:

  • Highlights the importance of comprehensive hemoglobin analysis in diagnosing complex cases.
  • Contributes to understanding the clinical spectrum of rare hemoglobin variants.
  • Informs genetic counseling and management strategies for patients with combined hemoglobinopathies.