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Newborn Screening ACT Sheet

[FSC]
Hemoglobin SC Disease (HbSC)

Differential Diagnosis: Hemoglobin SC disease most likely.

Condition Description: A red cell disorder characterized by the presence of fetal hemoglobin (F) and hemoglobins S and C in the absence of Hb A. The hemoglobins are listed in order of the amount of hemoglobin present (F>S>C). This result is different from FAS which is consistent with sickle carrier.

YOU SHOULD TAKE THE FOLLOWING ACTIONS:

  • Contact the family to inform them of the screening result.
  • Consult a specialist in hemoglobin disorders; refer if needed.
  • Evaluate infant and assess for splenomegaly; do complete blood count (CBC).
  • Order hemoglobin profile analysis (usually performed by electrophoresis).
  • Initiate timely confirmatory/diagnostic testing as recommended by consultant.
  • Initiate treatment as recommended by consultant.
  • Educate parents/caregivers regarding the risk of sepsis, the need for urgent evaluation for fever of ≥38.5o C (101o F) and signs and symptoms of splenic sequestration.
  • Report findings to newborn screening program.


Diagnostic Evaluation:

CBC. Hemoglobin separation by electrophoresis, isoelectric focusing or high performance liquid chromatography (HPLC) shows FSC. DNA studies may be used to confirm genotype.

Clinical Considerations:

Newborn infants are usually well. Hemolytic anemia and vaso-occlusive complications develop during infancy or early childhood. Complications include life-threatening infection, splenic sequestration, pneumonia, acute chest syndrome, pain episodes, aplastic crisis, dactylitis, priapism, and stroke. Comprehensive care including family education, immunizations, prophylactic penicillin, and prompt treatment of acute illness reduces morbidity and mortality.

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