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Newborn Screening ACT Sheet

[FC]
Hemoglobin CC Disease or Hemoglobin C/Beta Zero Thalassemia (HbC/β0 Disease)

Differential Diagnosis: Hemoglobin FC pattern on newborn screen is highly suggestive of homozygous hemoglobin C, hemoglobin C/beta zero thalassemia or hemoglobin C/hereditary persistence of fetal hemoglobin (Hb C/HPFH).

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

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) and mean corpuscular volume (MCV).
  • Order hemoglobin profile analysis (usually performed by electrophoresis).
  • Consult a specialist in hemoglobin disorders; if patient is anemic for age, refer immediately.
  • 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, or high performance liquid chromatography (HPLC), shows FC pattern. DNA studies may be used to confirm genotype.

Clinical Considerations:

Infant is usually normal at birth. Hemoglobin CC is associated with a mild hemolytic anemia. Aplastic crises and gallstones may occur. Individuals with hemoglobin C/beta zero have a moderately severe anemia, splenomegaly, and may have bone changes. C-HPFH is clinically mild.

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