Differential Diagnosis: Hemoglobin FAE pattern on newborn screen indicates Hb E beta plus thalassemia.
Condition Description: A red blood cell disorder characterized by presence of fetal hemoglobin (F) and hemoglobin A and hemoglobin E. The hemoglobins are listed in order of the amount of hemoglobin present (F>A>E).
YOU SHOULD TAKE THE FOLLOWING ACTIONS:
CBC and MCV. Hemoglobin separation by electrophoresis, isoelectric focusing (IEF), or high performance liquid chromatography (HPLC), shows FAE pattern. DNA studies may be used to confirm genotype.
Infants are usually normal at birth. Clinical severity is variable depending on the specific + thalassemia mutation. Severely affected individuals may require life-long transfusion, splenectomy, and treatment for iron overload.