- Autosomal recessive disorder that leads to impaired hemoglobin chain synthesis
- Thalassemia provides innate protection against severe malaria
- Mediterranean, Middle East, Trans-caucasus (Armenia, Georgia, Azerbaijan), Central Asia, Indian Subcontinent, and Far East background
- Typically dx during childhood as part of newborn screen
- SOB, DOE, fatigue related to hemolysis
- Symptoms relate to degree of impaired synthesis, ranging from very symptomatic (Thallassemia Major) to asymptomatic (Thallassemia Minor)
- Sometimes also symptoms related to extra-meduallary hematopoesis (splenomegay, hepatomegaly, vertebral/para-vertebral bone)
- If managed w/significant transfusion w/o iron chelation, can manifest iron overload
- Icterus, jaundice, hepatomegaly, splenomegaly
- Rarely findings related to cord compression from vertebral extra-medullary hematopoesis