NEWBORN SCREENING FOLLOW-UP
We assist the state Department of Public Health medical centers with locating parents of newborns with sickle cell disease. Sickle cell counseling is also provided to families of newborns who receive a preliminary diagnosis of sickle cell trait.
More About Newborn Screening:
Newborn screening for sickle cell disease is performed by high performance liquid chromatography (HPLC) testing to determine the presence of abnormal hemoglobins (Hgb) in whole blood. Unaffected infants will have mostly fetal hemoglobin (Hgb F) and some adult hemoglobin (Hgb A). HPLC has been shown effective in detecting hemoglobinopathies characterized by synthesis of an abnormal hemoglobin molecule immediately after birth. A baby testing positive for a form of sickle cell disease will have Hgb F with Hgb S and possibly, another abnormal hemoglobin such as Hgb C, Hgb E or beta thalassemia. All abnormal newborn screening test results indicating a sickle cell disorder require appropriate confirmatory blood tests, sometimes including testing of parents and siblings for actual diagnosis. Referral to a pediatric hematologist for evaluation and diagnostic testing is recommended within the first month of life and should not be delayed until the infant is older. If newborn screening results indicate less serious hemoglobin disorders or traits, referral to a pediatric hematologist for parental education and counseling is recommended. Even small transfusions may cause false negative screening test results and any results indicating that the baby was transfused require repeat testing 90 days after the last transfusion.
There are several recommended testing methods for diagnosis of sickling disorders and other hemoglobinopathies: Hemoglobin electrophoresis including both cellulose acetate and citrate agars (one is not sufficient), isoelectric focusing and high performance liquid chromatography are considered proven, reliable and accurate methods for defining an infant’s hemoglobin phenotype. All siblings of infants diagnosed with a sickle cell disease should be tested; genetic counseling services should be offered to parents.
Sickle cell diseases affect more than 50,000 Americans, primarily those of African heritage, but also those of Mediterranean, Caribbean, South and Central American, Arabian or East Indian heritage. About one out of every 375 African-American children is affected by sickle cell disease, making it one of the most prevalent genetic diseases in the United States.