Newborn screening for sickle cell disease: necessary but not sufficient
Journal Title: Jornal de Pediatria - Year 2015, Vol 91, Issue 3
Abstract
Sickle cell disease is a global health problem that affects>300,000 newborns per year, predominantly in Sub-Saharan Africa,1 where mortality is estimated to be>50% by age 5 years for those with homozygous hemoglobin S (HbSS).1 In Brazil, there are estimated to be>30,000 individuals with sickle cell disease and 2,500 newborns per year, making this the most common genetic disorder in the country.2 Advances in the management of sickle cell disease in the United States have led to a decline in mortality from about 26% to approximately 1-2% in the first 18 years of life, with the greatest progress demonstrated by a flattening of the mortality peak in the ages of 1-4 years from 13% to 2%.3,4 Much of this progress resulted from the implementation of universal newborn screening in all 50 states in the U.S. following publication of the results of the prophylactic penicillin study, which demonstrated a dramatic reduction in sepsis and mortality due to S. pneumonia in the first five years of life.5
Authors and Affiliations
Winfred Wang
Keywords
Related Articles
- EP ID EP558347
- DOI 10.1016/j.jped.2015.01.002
- Views 64
- Downloads 0
Health-related quality of life in adolescents with excess weight
Objective To identify health-related quality of life in adolescents with excess weight and associated factors, such as gender, age, and weight categories. Method A cross-sectional study with collected and secondary data...
Advanced bone age as an indicator facilitates the diagnosis of precocious puberty
Objective Diagnosis of central precocious puberty has always been challenging in clinical practice. As an important method in the diagnosis of central precocious puberty, luteinizing hormone-releasing hormone stimulation...
Genetic determinants and stroke in children with sickle cell disease
Objective To verify genetic determinants associated with stroke in children with sickle cell disease (SCD). Methods Prospective cohort with 110 children submitted to neonatal screening by the Neonatal Screening Program,...
Translation and validation of the Transition Readiness Assessment Questionnaire (TRAQ)
Objective To translate and validate the Brazilian Portuguese version of the Transition Readiness Assessment Questionnaire in a population of adolescents and young adults with chronic rheumatologic disorders. This questio...
Hospitalizations of children with sickle cell disease in the Brazilian Unified Health System in the state of Minas Gerais
Objective To identify and characterize hospital admissions and readmissions in the Brazilian Unified Public Health System (Sistema Único de Saúde [SUS]) in children with sickle cell disease diagnosed by the Minas Gerais...