RESUMEN

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.

Asunto(s)

Anemia de Células Falciformes/diagnóstico , Hemoglobina Fetal/genética , Eliminación de Gen , Globinas/genética , Tamizaje Neonatal , Alelos , Anemia de Células Falciformes/genética , Femenino , Genotipo , Hemoglobina Falciforme/genética , Heterocigoto , Humanos , Lactante , Recién Nacido , Reacción en Cadena de la Polimerasa , Embarazo