DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up.

Bhardwaj, Urvashi; Zhang, Yao-Hua; Jackson, Desirée S; Buchanan, George R; Therrell, Bradford L; McCabe, Linda L; McCabe, Edward R b · J Pediatr · 2003

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.

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