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HBE homozygous haemoglobinpathy - Fortuitous finding.

V L Premika Sri1, C Sreeja1, R Sathish Muthukumar1

  • 1Department of Oral and Maxillofacial Pathology, Chettinad Dental College and Research Institute, Chennai, Tamil Nadu, India.

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|April 21, 2023
PubMed
Summary
This summary is machine-generated.

This case highlights a rare incidental finding of homozygous hemoglobin E (HbE) disease in a patient presenting with gingivitis. Early diagnosis through blood tests can prevent future complications.

Keywords:
Codocyteshemoglobinopathythalassemic trait

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Area of Science:

  • Hematology
  • Genetics
  • Oral Medicine

Background:

  • Gingival pigmentation and deposits can be indicative of underlying systemic conditions.
  • Routine blood investigations are crucial for comprehensive patient assessment, even for seemingly localized oral complaints.

Observation:

  • A 24-year-old male presented with gingivitis and pigmentation, leading to blood investigations.
  • Blood tests revealed erythrocytosis with microcytic hypochromic red blood cells, polychromatophils, target cells, and spherocytes.

Findings:

  • High-performance liquid chromatography (HPLC) identified 90.8% HbE, confirming homozygous hemoglobinopathy.
  • The patient had no other systemic findings or significant family history.

Implications:

  • This incidental diagnosis of homozygous HbE disease underscores the importance of thorough blood analysis.
  • Genetic counseling is recommended for patients diagnosed with hemoglobinopathies to inform future reproductive decisions.
  • Early identification of carrier status for conditions like thalassemia can prevent potential future health issues.