The average life expectancy in America (for an individual with sickle cell disease) has improved since all children are now screened for it.
Sickle Cell Disease Association of America, 2021
Newborn screening in the United States is linked with increasing survival of children with sickle cell disease, and this positive result has been replicated worldwide (Jae, 2018). Universal screening virtually eliminated early childhood morbidity and mortality from sickle cell disease in the U.S. by training parents and families to recognize complications early and by encouraging appropriate follow-up, preventive care and disease treatment.
State law requires that all babies born in Texas have two newborn screening tests for certain heritable and congenital disorders. Blood samples are collected from a heel stick 24 to 48 hours after birth and again at age 1 to 2 weeks. The samples are sent to the DSHS Laboratory for screening.
The Texas newborn screen panel includes:
HbSS (sickle cell anemia)
HbSΒ-Thal (hemoglobin S/beta-thalassemia)
HbSC (sickle hemoglobin C disease)
Other hemoglobin variants
Newborn screening is included on the Texas Health Steps Periodicity Schedule as part of the newborn checkup in the birth facility and again during the preventive medical checkup at 2 weeks of age. The newborn screen must be collected at the time of the medical checkup or at any time for a child up to 12 months of age if a newborn screen was not previously obtained.
If a baby reaches 14 days of age without having had a second specimen collected, the health-care provider should collect the blood specimen at the first opportunity. Primary care providers are responsible for submitting the newborn blood specimen, evaluating results and providing or coordinating follow-up care and any needed referrals.
Following Up When a Newborn Tests Positive
A health-care provider’s responsibilities include:
Notifying parents and caregivers if their baby’s screening results show sickle cell disease or trait.
Informing them about the type of sickle cell disease or trait in their child.
Explaining the implications of the disease or trait.
DSHS encourages use of the FACT sheets (disease-specific information sheets) for parents of children with sickle cell disease or trait and the ACT sheets (action sheets) about sickle cell disease for health-care providers.
If newborn screening results are positive for any disorder, DSHS’s Newborn Screening Clinical Care Coordination staff contacts the health-care provider to quickly relay these critical results. Families should be notified promptly of out-of-range newborn screening results, and Texas Health Steps requires providers to do this.
The newborn’s medical home may request laboratory result reports by calling the DSHS Newborn Screening Laboratory at 512-776-7578 (Monday through Friday, 8 a.m. to 5 p.m. Central time) or toll-free 888-963-7111, ext. 7578. In addition, results may be accessed through the Texas Newborn Screening Web Application. Authorized users of this system can access result reports on a 24/7 basis. Sign up to access screening results online from the Newborn Screening Program website.
The health-care provider must discuss screening results with the family or caregivers to ensure they received test results and understand them. Once a family is notified of a positive screening result, the Clinical Care Coordination staff works with the health-care provider and family to ensure that recommended follow-up screens or confirmatory testing take place. Clinical Care Coordination staff also is available for newborn screening follow up and outreach education.
Primary care providers should refer children with sickle cell disease to a pediatric hematologist, who will closely monitor and manage the child’s disease treatment and preventive care. Primary care providers, specialists and subspecialists work as a team to promote the well-being of individuals with sickle cell disease.
Knowing that your young patient has sickle cell disease allows you to be alert for complications that should be reported to the specialist or subspecialist. In your routine interactions with these patients, you can ensure that recommendations from the specialist or subspecialist are recorded in the health-care record as well as encourage adherence to medications, testing and medical appointments.
Children with sickle cell disease need comprehensive care that includes ongoing patient and family education, periodic evaluations, other disease-specific health maintenance services and psychosocial care. They should receive genetic counseling when they reach reproductive age.
