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Virtual Pediatric Hospital: Paediapaedia: Thalassemia Major Paediapaedia: Musculoskeletal Diseases

Thalassemia Major

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
Thalassemia major is a progressive anemia and jaundice that begins in the first 2 years of life with death prior to adolescence. Thalassemia minor has less prominent symptoms.

Etiology/Pathophysiology:
Have erythroblastemia and marked changes in the size and shape of the red blood cell. The treatment is splenectomy.

Pathology:
Not applicable

Imaging Findings:
Radiographic findings reflect the increased hematopoiesis. A generalized osteopenia is seen with decreased trabecular prominence, a widened medullary space, and thin cortices. These findings are most marked in the hands and femurs. "Hair on end" appearance is seen in the skull. Twenty-three percent of patients greater than 10 years old have premature epiphyseal fusion. Extramedullary hematopoiesis can present as lobulated masses in the mediastinum contiguous to the spine. Hemosiderin is deposited in various organs, particularly the liver. Cardiomegaly is often seen secondary to high output congestive heart failure.

DDX:

References:
See References Chapter.

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