DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up.
case_report · Level V
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Abstract
Molecular genetic confirmatory testing with polymerase chain reaction amplification is integral to neonatal hemoglobinopathy screening programs. In this study, we demonstrate applicability of polymerase chain reaction-based testing for the common deletions in blacks responsible for hereditary persistence of fetal hemoglobin. This approach will provide rapid diagnostic clarification in newborn screening follow-up.
Medical subject headings
- Anemia, Sickle Cell
- Fetal Hemoglobin
- Gene Deletion
- Globins
- Neonatal Screening