Diagnosis

Besides the picture described above, diagnosis of both p-thalassemia major and p-thalassemia intermedia is based on the following hematological features:

1. Typical peripheral blood smear showing microcytosis, hypochromia, anisocytosis, poikilocytosis, and nucleated red blood cells.

2. Hb pattern (by cellulose acetate electrophoresis or HPLC), characterized by HbF, and trace of HbA2 (p°-thalassemia) or 10-30% HbA, 70-90 HbF, and trace of HbA2 (p+-thalassemia).

3. Complete absence (^"-thalassemia) or extreme reduction (p+-thalassemia) of p-chains by in vitro synthesis of radioactive-labeled globin chains.[2,3]

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