Sickle cell disease (SCD) is a group of inherited blood disorders affecting hemoglobin, the protein that carries oxygen in red blood cells. Normally, red blood cells are flexible and disk-shaped. In SCD, a genetic mutation causes them to become rigid, sticky, and crescent- or “sickle”-shaped under certain conditions. These misshapen cells can block blood flow, leading to pain, organ damage, and serious health complications. Early identification is crucial for a child’s long-term health, which is why newborn screening (NBS) for SCD is a mandatory public health measure in all fifty states. Understanding how to access and interpret these results is an important first step for parents to ensure immediate connection to specialized care.
The Newborn Screening Process for Sickle Cell
The initial screening for sickle cell is a standard part of routine newborn care performed shortly after birth. The test typically occurs within 24 to 48 hours, often before the baby leaves the hospital. A healthcare professional performs a heel stick, collecting a few drops of blood onto a specialized filter paper card, known as a dried blood spot specimen.
This sample is then sent to a central state public health laboratory for analysis. The lab checks for a variety of serious conditions, including SCD, by identifying the types and amounts of hemoglobin present in the blood. These techniques can distinguish between normal adult hemoglobin (HbA), fetal hemoglobin (HbF), and the abnormal hemoglobin variants associated with sickle cell.
Locating and Requesting Your Child’s Test Results
Obtaining your child’s newborn screening results is often a multi-step process because the results are not always automatically given to parents. The fastest way to get these results is by contacting your child’s primary care provider (PCP), such as the pediatrician. The state public health laboratory typically sends the final report directly to the healthcare provider who ordered the screening, including the birthing facility and the baby’s PCP.
If the PCP does not have the records, contact the hospital or birthing center where the sample was collected. The turnaround time for results varies by state and lab volume, but they are usually available within one to two weeks of the test being performed.
Newborn screening programs are state-specific, and each state’s public health department maintains the central registry of results. If the hospital and PCP cannot locate the record, contact your state’s Newborn Screening Program coordinator. Many states require a signed consent form, often available on the public health department’s website, to release the results directly to the parents. If your child was born in a different state, you must contact the NBS program in that birth state, as records are not centrally managed.
Interpreting the Sickle Cell Screening Outcomes
The newborn screening test identifies the specific types of hemoglobin present in the baby’s blood, which are reported using letter codes.
Normal Result (FA)
A normal result is reported as FA, indicating the presence of Fetal hemoglobin (F) and normal Adult hemoglobin (A). Fetal hemoglobin is naturally predominant in a newborn, but the presence of Adult hemoglobin confirms a normal hemoglobin status.
Sickle Cell Trait (AS)
If the result is reported as AS, this indicates Sickle Cell Trait. This means the child has inherited one gene for normal hemoglobin (A) and one gene for the sickle hemoglobin (S). Individuals with the trait are generally asymptomatic carriers and do not have the disease, but they can pass the gene to their children.
Potential Disease (FS, FSC)
A result reported as FS or FSC indicates a potential Sickle Cell Disease. The FS pattern shows Fetal hemoglobin and Sickle hemoglobin with little or no Adult hemoglobin. This pattern is the most common indicator for Sickle Cell Anemia. The initial screening is not a definitive diagnosis, as the FS pattern can represent other related conditions. The screening simply flags the need for immediate, confirmatory diagnostic testing.
Next Steps Following an Abnormal Screening Result
If the initial newborn screening result is abnormal, suggesting a sickle cell trait or disease, the parents and the child’s provider are contacted immediately. For a positive screening result indicating disease, the follow-up team arranges for a confirmatory diagnostic test. This second test, typically a venous blood draw, is more accurate than the heel stick and is necessary to confirm the specific type of hemoglobinopathy.
If sickle cell disease is confirmed, the baby is referred promptly to a pediatric hematologist, a specialist in children’s blood disorders. This referral should happen quickly, ideally within the first month of life, to begin early intervention. Early diagnosis allows for treatments such as prophylactic penicillin, which is started by two months of age to prevent life-threatening bacterial infections. Parents are also offered genetic counseling to understand the inheritance pattern and implications for future children.