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Thalassemia

Case contributed by Melbourne Uni Radiology Masters
Diagnosis almost certain

Presentation

Stuffy nose since birth.

Patient Data

Age: adult
Gender: Unknown

Skull radiograph

x-ray

The findings of a hair on-end appearances are characteristic of thalassemia.

Case Discussion

The skull findings are in keeping with an hemoglobinopathy, with differentials including: thalassemia major, sickle cell disease, hereditary spherocytosis, and, less likely, iron deficiency anemia. 

This patient is known to the service with the diagnosis of Thalassemia major.  

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