Beta-thalassemia physical examination

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Beta-thalassemia Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Maryam Hadipour, M.D.[2]

Overview

Physical Examination

Physical findings in beta-thalassemia major may include:

  • Pallor
  • Hyperpigmentation due to transfusion
  • Jaundice
  • Hepatosplenomegaly
  • Facial bone deformities
  • Frontal bossing
  • Long bone abnormalities
  • Skull expansion with frontal, malar, and nasal bridge prominences
  • Maxillary hypertrophy
  • The upper maxillary expansion causes malocclusion by altering tooth spacing
  • Short trunk and genu valgum
  • Delayed sexual development
  • low blood pressure which may indicate cardiac decompensation
  • Irregular pulse due to iron-related myocardial abnormalities

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