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Newborn screening for hemoglobinopathies in Colorado. The first 10 years
J H Githens1, P A Lane, R S McCurdy
1Department of Pediatrics, University of Colorado School of Medicine, Denver.
Insights
Colorado
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Newborn screening for hemoglobinopathies, including sickle cell disease, is crucial for early diagnosis and intervention.
- Electrophoresis methods have been used for hemoglobinopathy detection in newborns since 1979.
- The Colorado newborn screening program aimed to identify infants with these genetic blood disorders.
Purpose of the Study:
- To review the effectiveness and outcomes of the Colorado newborn screening program for hemoglobinopathies.
- To assess the accuracy and limitations of the established screening methods.
- To evaluate the impact of screening on identified cases of sickle cell disease.
Main Methods:
- Analysis of screening data for 528,711 infants born in Colorado between 1979 and 1988.
- Utilized cellulose acetate and citrate agar electrophoresis on dried capillary blood spots.
- Follow-up data on infants diagnosed with sickle cell diseases through September 1989.
Main Results:
- Identified 47 infants with sickle cell diseases and 27 with other hemoglobin diseases.
- The screening program detected no mortality among the 47 infants with sickle cell diseases.
- Initial screening missed 4 cases of sickle cell anemia, but 3 were caught on routine retesting for sickle cell trait.
Conclusions:
- Newborn screening for hemoglobinopathies in Colorado has demonstrated significant value in identifying affected infants.
- The existing screening methods showed limitations, missing some cases of sickle cell anemia.
- Enhancing the sensitivity of screening tests is recommended to improve program effectiveness and early detection rates.
Abstract:
In Colorado, newborn screening for hemoglobinopathies by cellulose acetate and citrate agar electrophoresis of dried capillary blood spots was established in 1979. We reviewed the results of screening 528,711 infants through 1988. Forty-seven infants with sickle cell diseases and 27 infants with other hemoglobin diseases were identified. The initial screening failed to detect sickle cell anemia in 4 infants, but the hemoglobinopathy in 3 of these infants was diagnosed correctly by routine retesting of those with suspected sickle cell trait. A total of 47 infants with sickle cell diseases were followed through September 1989. There was no mortality among these infants. The screening test identified 3779 infants (1:140 births) with a suspected hemoglobin trait; confirmatory retesting was obtained in 53%. The results of our experience confirm the value of newborn screening for hemoglobinopathies but suggest that a more sensitive test would improve the program.