Differential Diagnosis: Hemoglobin FE pattern on newborn screen is highly suggestive of homozygous hemoglobin E or hemoglobin E/beta zero (β0) thalassemia.
Condition Description: A red blood cell disorder characterized by presence of fetal hemoglobin (F) and hemoglobin E in the absence of hemoglobin A. The hemoglobins are listed in order of the amount of hemoglobin present (F> E).
YOU SHOULD TAKE THE FOLLOWING ACTIONS:
CBC and MCV. Hemoglobin separation by electrophoresis, isoelectric focusing (IEF), or high performance liquid chromatography (HPLC), shows FE pattern. DNA studies may be used to confirm genotype.
Hemoglobin EE is clinically benign. Individuals with Hb EE are not anemic, but have microcytosis and target cells on blood smear. Clinical expression of Hb E/β0 thalassemia is variable. Most individuals with Hb E/β0 thalassemia have moderately severe anemia, hepatosplenomegaly, intermittent jaundice, growth retardation, and overexpansion of the bone marrow. Severely affected individuals require life-long transfusion, splenectomy and treatment for iron overload.