Highlights & Basics
- Beta-thalassemia is an inherited blood disorder caused by mutations of the beta-globin gene that results in ineffective erythropoiesis.
- Spectrum of severity from asymptomatic to severe anemia and skeletal changes.
- Blood transfusions are required for beta-thalassemia intermedia and major, but are associated with iron overload complications.
- Stem cell transplantation offers cure.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Citations
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Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) 2nd Edition. 2017 [internet publication].[Full Text]
Karimi M, Cohan N, De Sanctis V, et al. Guidelines for diagnosis and management of beta-thalassemia intermedia. Pediatr Hematol Oncol. 2014 Oct;31(7):583-96.[Abstract]
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