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Newborn Screening ACT Sheet

[FS]
Sickle Cell Anemia (HbSS Disease or HbS/Beta Zero Thalassemia)

Differential Diagnosis: Homozygous sickle cell disease (Hb SS), sickle beta-zero thalassemia, or sickle hereditary persistence of fetal hemoglobin (S-HPFH).

Condition Description: A red blood cell disorder characterized by presence of fetal hemoglobin (F) and hemoglobin S in the absence of hemoglobin A. The hemoglobins are listed in order of the amount of hemoglobin present (F>S). 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) with mean corpuscular volume (MCV), and reticulocyte count.
  • Order hemoglobin profile analysis (usually performed by electrophoresis).
  • Initiate timely confirmatory/diagnostic testing as recommended by consultant.
  • Initiate daily penicillin VK (125mg po bid) prophylaxis and other treatment as recommended by the consultant.
  • Educate parents/caregivers regarding the risk of sepsis, the need for urgent evaluation if fever of ≥ 38.5o C (101o F) or signs and symptoms of splenic sequestration.


Diagnostic Evaluation:

CBC, MCV, and reticulocyte count. Hemoglobin separation by electrophoresis, isoelectric focusing or high performance liquid chromatography (HPLC) shows FS pattern. DNA studies may be used to confirm genotype. Sickledex is not appropriate for confirmation of diagnosis in infants.

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. S-HPFH is typically benign.

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