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Case 64 - Discussion

Hematopathology Case

This patient had anemia and splenomegaly with a HG A of 61.5%  and a HG F of 38.5%. Blood smear reveals anisopoikilocytosis and many target cells. The differential diagnosis includes β-thalassemia intermedia and Hereditary persistence of fetal hemoglobin (HPFH). HPFH should have no anemia and unremarkable blood smear. Therefore, I favor β-thalassemia intermedia.

 β-Thalassemia Intermedia  and β -Thalassemia Major

  • Cause: point mutation, β0 complete abrogated, β+ partially

  • Clinical: severe anemia, not transfusion dependent

  • CBC: microcytic, HbA2 may or may not increased

  • Blood smear: marked anisopoikilocytosis, many nRBCs

  • HbF: 20-40% (β-thal intermedia), 60-98% (β -thal major)

  • DDX: HPFH - normal HGB level, not microcytic

Hereditary Persistence of Fetal Hemoglobin (HPFH)

  • Cause: large deletion of β and δ globin chains

  • Clinical: no anemia

  • CBC: normal with normal or slightly decreased MCV, HbF 25-35%

  • Blood smear: unremarkable