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  • Title: DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up.
    Author: Bhardwaj U, Zhang YH, Jackson DS, Buchanan GR, Therrell BL, McCabe LL, McCabe ER.
    Journal: J Pediatr; 2003 Mar; 142(3):346-8. PubMed ID: 12640388.
    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.
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