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Alpha Thalassemia Major

In alpha thalassemia major, anemia is actually fatal. Red blood cell (RBC) count is increased while hemoglobin is severely decreased. Both the MCV and MCHC are decreased. Red cell distribution width (RDW) is increased. RBC morphology shows slight hypochromic microcytosis with codocytes, schizocytes, nucleated RBCs. Reticulocytes are increased.

Hemoglobin electrophoresis demonstrates abnormal pattern on cord blood:
Hb A - absent
Hb Bart's - 80-90%
Hb Portland - 0-20%

Note: Bone marrow demonstrates marked erythroid hyperplasia.