From the Guidelines
All newborns should be screened for sickle cell disease as part of routine newborn screening programs using hemoglobin electrophoresis, high-performance liquid chromatography (HPLC), or isoelectric focusing. This is because early detection is crucial for prompt initiation of preventive measures and regular follow-ups with hematologists to prevent complications such as pneumococcal infections, vaso-occlusive crises, acute chest syndrome, and splenic sequestration 1.
Key Points to Consider
- Newborn screening programs are available in all 50 states, the District of Columbia, Puerto Rico, the US Virgin Islands, and the US military, and pediatricians should be familiar with their state's screening programs 1.
- For adults who weren't screened at birth, testing is recommended for those with a family history of sickle cell disease or trait, individuals of African, Mediterranean, Middle Eastern, Indian, Caribbean, or South and Central American ancestry, and pregnant women from these high-risk populations.
- Early diagnosis enables patient education about recognizing signs of complications, which can be life-threatening if not addressed promptly.
- Transfusion therapy and hydroxyurea may be considered for children at high risk for stroke, as indicated by transcranial Doppler (TCD) screening starting at 2 years of age and continuing annually to 16 years of age 1.
Recommendations for Screening and Prevention
- Screening for sickle cell disease should be performed on all newborns, and the results should be recorded in the medical record and shared with the family.
- Pediatricians should educate families about the potential future risk of conceiving a subsequent child with sickle cell disease if the newborn is found to have sickle cell trait or disease.
- Regular follow-ups with hematologists and preventive measures such as penicillin prophylaxis and pneumococcal vaccinations should be initiated promptly after diagnosis.
From the Research
Screening Techniques for Sickle Cell Disease
- Various techniques are available for screening sickle cell disease, including complete blood count, peripheral blood smears, and sickling test 2
- Confirmatory tests such as hemoglobin separation techniques, including isoelectric focusing, cellulose acetate electrophoresis, and cation exchange HPLC, can be used to detect hemoglobin S 3
- Genetic tests are also available, but are more expensive and require specialized personnel 2
Detection Methods
- Solubility tests can be used to detect sickle hemoglobin with high reliability, but may not detect other abnormal hemoglobins 4
- Hemoglobin electrophoresis can be used to detect other abnormal hemoglobins in addition to hemoglobin S 4
- Reverse Phase-high-performance Liquid Chromatography (RP-HPLC) can be used to detect and identify globin chains, and to confirm the diagnosis of β-hemoglobinopathies 5
Importance of Early Detection
- Early detection of sickle cell disease is crucial to reduce mortality and manage the disease effectively 2
- Diagnosis of HbS should be done as early as possible, ideally on the first day of life 3
- Screening programs should have a specific purpose and strategy, and should be undertaken with careful consideration 4