Quick tip - 1. Mild thalassemia often masquerades as iron deficiency: Microcytosis with normal or elevated RBCs and iron studies should prompt evaluation for thalassemia, not empiric iron therapy.
IDA vs Thal Calculator
Mentzer Index
Diagnosis – Combination of s/sx and lab testing (Hgb electrophoresis for β-thal, ⍺ thal may require gene sequencing )
Trait minor (carriers) may have mild symptoms – Hgb normally >10
Thal intermedia – not transfusion dependent but may require transfusions during periods of stress (parvo B19 infection)- Hgb normally 7-11
Thal major – Transfusion dependent(β major) or hydrops fetalis(⍺ major)
Labs - Must check FE studies – will show normal to ↑ FE
Older Thalassemia patients may have FE overload and need FE Chelation
Physical Exam - growth retardation, facial abnormalities (frontal bossing, “chipmunk facies”) shortened arms due to premature fusion of epiphyses.
Treatment - folic acid supplementation, pRBC transfusions, chelators for iron overload - PO Deferasirox (Exjade) Deferoxamine (Desferal), Allo transplant for β-major, Luspatercept to reduce transfusion burden.
Genetic counseling/testing referral
Bulging Forehead / Clinical Features
Caused by extramedullary hematopoiesis
