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Neonatal screening for sickle cell disease in a metropolitan university hospital: efficacy and problems
S K Ballas1, D Park, R J Wapner
1Cardeza Foundation for Hematologic Research, Department of Medicine, Jefferson Medical College, Philadelphia, PA 19107, USA.
Insights
Newborn screening effectively identified sickle cell anemia in infants, enabling early treatment. However, challenges remain in family follow-up for suspected cases and diagnosing silent disorders.
Area of Science:
- Medical Genetics
- Pediatric Hematology
- Public Health Screening
Background:
- Sickle cell anemia is a significant inherited blood disorder.
- Early detection and intervention are crucial for managing sickle cell anemia.
- Newborn screening programs aim to identify infants with hemoglobinopathies.
Purpose of the Study:
- To evaluate the effectiveness of a newborn screening program for sickle cell anemia.
- To assess the identification and treatment rates of infants with sickle cell anemia.
- To identify challenges in the screening and follow-up process.
Main Methods:
- Newborn cord blood samples were tested for hemoglobinopathies using electrophoresis and isoelectric focusing.
- Infants suspected of having sickle cell anemia were recalled for diagnostic confirmation.
- Families of infants with sickle cell trait or Hb C trait received notification letters.
Main Results:
- The screening program successfully identified infants with sickle cell anemia, with 12 out of 14 confirmed cases.
- Sickle cell trait was found in 3.5% of infants, Hb C trait in 1.3%, and Hb Bart's in 3.4%.
- Difficulties were encountered in tracking families, with a 30% non-response rate in suspected cases.
Conclusions:
- The screening program was effective in identifying and initiating treatment for infants with sickle cell anemia.
- Challenges in family follow-up were noted, impacting diagnostic confirmation in a significant percentage of cases.
- The study highlighted the prevalence of sickle cell trait in white populations and the occurrence of "silent" sickle cell disorders in African Americans.
Objective:
To determine the effectiveness of a screening programme to identify infants with sickle cell anaemia.
Setting:
A metropolitan university hospital.
Method:
4845 (73.3%) newborn cord blood samples from 6271 infants born in the Thomas Jefferson University Hospital over a two year period were tested for the presence of haemoglobinopathies. The patient group comprised approximately 44% white Americans and 51% African Americans. Diagnoses of haemoglobinopathies were established by cellulose acetate (pH 8.6) and citrate agar (pH 6.2) electrophoresis, and thin layer isoelectric focusing.
Results:
17 African American infants were suspected of having sickle cell anaemia and their families were notified and called for retesting to confirm the diagnosis. Fourteen of these families responded; retesting confirmed the diagnosis of sickle cell anaemia in 12 (86%), and the remaining two (14%) had sickle cell trait. The other three families never responded and all efforts to reach them were unsuccessful so the diagnosis could not be confirmed. The infants for whom the diagnosis of sickle cell anaemia was confirmed were treated prophylactically with penicillin and enrolled in sickle cell programmes. Of 398 infants with an abnormal haemoglobin (Hb), 170 (3.5% of all infants tested) showed sickle trait, 63 (1.3%) showed Hb C trait, and 165 samples (3.4%) showed Hb Bart's. Letters of notification were sent to those families whose infants had sickle trait or Hb C trait. Thirty three (16%) families responded and asked for additional information, counselling, or testing of other family members. Three of these families (about 0.1% of all white subjects tested) were white subjects of Italian, English, and Polish ancestry, and all of their infants had sickle trait. Additional testing on other family members showed that one black parent had Hb SC disease that had not previously been diagnosed as the subject was asymptomatic.
Conclusions:
A screening programme for newborns in a metropolitan hospital (a) was effective in identifying and treating infants with sickle cell anaemia with prophylactic penicillin, (b) was associated with difficulties in tracking infants and their families in about 30% of suspected cases of sickle cell disease, (c) found that sickle trait is not uncommon in white subjects, and (d) found that "silent" sickle cell disorders to occur among American black subjects.