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Newborn Screening ACT Sheet

[FCA]
Hemoglobin C/Beta Plus Thalassemia (HbC/β+ Disease)

Differential Diagnosis: Hemoglobin FCA pattern on newborn screen indicates Hb C beta plus thalassemia.

Condition Description: A red blood cell disorder characterized by presence of fetal hemoglobin (F) and hemoglobin C and hemoglobin A. The hemoglobins are listed in order of the amount of hemoglobin present (F>C>A).

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, red blood count (RBC), 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, RBC, and MCV. Hemoglobin separation by electrophoresis, isoelectric focusing, or high performance liquid chromatography (HPLC), shows FCA pattern. DNA studies may be used to confirm genotype.

Clinical Considerations:

Infant is usually normal at birth. Individuals with HbC beta plus thalassemia have a variable degree of anemia and splenomegaly, depending on the specific + thalassemia mutation. The clinical manifestations range from mild to moderate hemolytic anemia and splenomegaly, resembling thalassemia intermedia in severe cases.

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