Thalassemia
Hb C
results from a mutation in the beta-globin chain that causes glutamate to be replaced by lysine.
Hb C forms hexagonal crystals and promotes red cell dehydration, causing a mild chronic hemolytic anemia.
2,3-BPG binding and tissue oxygen delivery are not significantly altered.
Beta Thalassemia Major (Cooley Anemia)
usually presents in 2nd month of life with following:
Progressive anemia, hypersplenism, and cardiac decompensation (Hb < 4 mg/dL)
· Expanded medullary space with increased expansion of face and skull
· Extramedullary hematopoiesis
· Hepatosplenomegaly
Dx
Hb electrophoresis (absent or reduced HbA, variable increased HbA2, increased HbF