Virtually all states in the U.S. have instituted mandatory newborn screening program for sickle cell disease. Such programs identify newborns with the disease, provide prompt diagnosis and anticipatory guidance for the parents, and make possible the initiation of treatment with penicillin before 4 mo of age.
Newborn Screening:
The most commonly used procedures for newborn diagnosis include thin-layer/isoelectric focusing and high-performance liquid chromatography. A 2-step system is recommended, in which all initially abnormal screens are retested during the 1st clinical visit and again after 6 mo of age to determine the final hemoglobin phenotype.
A complete blood cell count as well as hemoglobin analysis is recommended on both parents to confirm the diagnosis and provide an opportunity for genetic counseling.
In affected patients, the red blood cell morphology after 3–6 mo of life is helpful for sickle cell disease and other hemoglobinopathies.
Newborn screening programs 1st report the hemoglobin with the greatest quantity, followed by the other hemoglobins in decreasing quantity. In newborns with a hemoglobin analysis consistent with a diagnosis of sickle cell disease, the FS pattern is supportive of Hb SS, Hb hereditary persistent fetal hemoglobin (Hb S/?0). The FSA pattern is supportive of the diagnosis of Hb S/?+. The diagnosis of Hb S/?+is confirmed if at least 50% of hemoglobin is Hb S, Hb A is Continue reading »
