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1.
Public Health Genomics ; 19(2): 102-7, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26991896

RESUMEN

BACKGROUND: Sickle-cell disease (SCD) is the most common inherited genetic disorder in sub-Saharan Africa, and it is associated with early mortality and lifelong morbidity. Early diagnosis is essential for instituting appropriate care and preventive therapy. OBJECTIVE: To compare parental knowledge or perception of their offspring's hemoglobin phenotype prior to testing and actual validated laboratory test results. METHODS: In a prospective community-based survey, we assessed parental knowledge of their children's hemoglobin phenotype and corroborated this with the results from a laboratory confirmatory test determined by high-performance liquid chromatography. RESULTS: We screened 10,126 children aged less than 5 years. A total of 163 (1.6%) parents indicated that their offspring had been previously tested and had knowledge of the child's hemoglobin genotype. However, 51 (31.2%) of 163 parents of children who had been previously tested did not know the result of their offspring's test, and 18 (35.3%) of these 51 children were found to have SCD. Of those who claimed previous knowledge, 25 (15.3%) of 163 reported incorrect results. Overall, we identified 272 (2.76%) new cases from 9,963 children who had not been previously tested. CONCLUSION: There is the need to promote public awareness about SCD and the benefit of early diagnosis, quality assurance in laboratory diagnosis and institution of sustainable patient care pathways.


Asunto(s)
Anemia de Células Falciformes/diagnóstico , Pruebas Diagnósticas de Rutina/normas , Conocimientos, Actitudes y Práctica en Salud , Padres , Adulto , Preescolar , Cromatografía Líquida de Alta Presión , Femenino , Hemoglobinas/análisis , Humanos , Lactante , Masculino , Fenotipo , Estudios Prospectivos
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