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Newborn Screening ACT Sheet

[FAE]
Hemoglobin E/Beta Plus Thalassemia (HbE/+ Disease)

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:

  • Contact the 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).
  • Order hemoglobin profile analysis (usually performed by electrophoresis).
  • Consult a specialist in hemoglobin disorders, refer if needed.
  • Initiate timely confirmatory/diagnostic testing as recommended by consultant.
  • 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 FAE pattern. DNA studies may be used to confirm genotype.

Clinical Considerations:

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.

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