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Craniofacial manifestations of β-thalassemia major

Bahram Javid1, Nasser Said-Al-Naief2

  • 1University of the Pacific, School of Dentistry, San Francisco, CA, USA.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
|December 3, 2014
PubMed

Insights

Beta-thalassemia major is a severe genetic blood disorder affecting millions globally. This case highlights the poor outcomes and management challenges despite aggressive treatment for this serious condition.

Area of Science:

  • Hematology
  • Medical Genetics

Background:

  • Hemoglobinopathies, including beta-thalassemia, are prevalent genetic disorders worldwide.
  • Beta-thalassemia major significantly impacts patient outcomes despite intensive therapeutic interventions.

Observation:

  • A case study of a 5-year-old Persian boy with beta-thalassemia major is presented.
  • The patient exhibited classical diagnostic features but did not survive aggressive management.

Findings:

  • The case underscores the severe prognosis of beta-thalassemia major.
  • A review of clinical, radiographic, laboratory, and diagnostic aspects is provided.

Implications:

  • Highlights multifactorial challenges in managing beta-thalassemia major.
  • Emphasizes the need for improved therapeutic strategies for severe hemoglobinopathies.

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