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 family to inform them of the newborn screening result
- Consult a specialist in hemoglobinopathies; refer if needed
- Evaluate infant and assess for splenomegaly
- 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 risks of sepsis, the need for urgent evaluation if fever of ≥101°F or signs and symptoms of splenic sequestration
- Report findings to state newborn screening program (Carleigh Soule at 307-777-6297)
Diagnostic Evaluation: Hemoglobin separation by electrophoresis, isoelectric focusing or HPLC showing FS pattern. Family or 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.
Additional Information: (Click on the name to take you to the website)
Grady Comprehensive Sickle Cell Center Wyoming Department of Health
Sickle Cell Disease Association Colorado Newborn Screening
For Algorithm: http://www.acmg.net/resources/policies/ACT/Visio-Hemoglobinopathy_4-18-06.pdf