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:
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.
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.