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Newborn Screening ACT Sheet

[FE]
Hemoglobin EE or Hemoglobin E/Beta Zero Thalassemia (Hb EE or Hb E/β0 Disease)

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:

  • Contact family family to inform them of the screening result.
  • Evaluate infant, assess for splenomegaly, and do complete blood count (CBC) for Hb, and mean corpuscular volume (MCV) at the initial visit and at six months to differentiate hemoglobin EE from hemoglobin E/beta zero thalassemia.
  • Order hemoglobin profile analysis (usually performed by electrophoresis).
  • Consult a specialist in hemoglobin disorders; if patient is anemic for age, refer immediately.
  • Report findings to newborn screening program.


Diagnostic Evaluation:

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.

Clinical Considerations:

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.

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