Presentation
Stuffy nose since birth.
Patient Data
Age: adult
Gender: Unknown
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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.