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BACKGROUND Newborn screening for hemoglobinopathy in Brazil has been decentralized until 2001 when the Health Ministry of Brazil established the National Newborn Hemoglobinopathy Screening Program. The State of Rio de Janeiro started a program in collaboration with the State Health Department and the Institute of Hematology in Rio (HEMORIO). The goal of(More)
Although evidence is accumulating that hydroxycarbamide decreases mortality among adults with sickle cell disease (SCD), there are no published data regarding the effect of hydroxycarbamide on mortality among children. The Paediatric Hydroxycarbamide Program was established to treat children with SCD aged 3-18 years if they met disease severity criteria.(More)
The aim of the present work was to examine possible genetic risk factors related to the occurrence of cerebrovascular disease (CVD) in Brazilian population, the frequency of β(S)-globin gene haplotypes and co-inheritance with α-thalassemia (-α(3.7kb)) and single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR-C677T), Factor V Leiden(More)
das hemácias e conseqüente anemia crônica. A incidência das hemoglobi-nopatias é de aproximadamente 4,5% na população mundial. Devido à alta incidência, essas desordens passaram a representar um grave problema de saúde pública em muitos países (1). Dentre as hemoglobinopatias, a doença falciforme (homozigose SS, du-pla heterozigose SC, S beta talassemia e(More)
OBJECTIVES To describe clinical events of sickle cell disease and the correlation with β-globin haplotypes and α-thalassemia in under 6-year-old children. METHODS A retrospective study was conducted of under 6-year-old children from the neonatal screening program in Rio de Janeiro. Forty-eight male and 48 female children were enrolled in this study, 79(More)
Children with sickle cell anemia (SCA) and conditional transcranial Doppler (TCD) ultrasound velocities (170-199 cm/sec) may develop stroke. However, with limited available clinical data, the current standard of care for conditional TCD velocities is observation. The efficacy of hydroxyurea in preventing conversion from conditional to abnormal TCD (≥200(More)
BACKGROUND Sickle cell disease is the most common monogenic hereditary disease in Brazil. Although strokes are one of the main causes of morbidity and mortality in these patients, the use of transcranial Doppler to identify children at risk is not universally used. OBJECTIVE To develop Brazilian guidelines for the use of transcranial Doppler in sickle(More)
OBJECTIVE To describe the main results obtained in the first 15 months of neonatal screening for sickle cell disease in the state of Rio de Janeiro, Brazil, from August 2000 to November 2001. METHODS Starting in August 2000, blood samples began to be collected for sickle cell disease screening from all newborns receiving care in primary health care(More)
1BSc, MSc, PhD, Instituto de Pesquisa Clínica Evandro Chagas, Fundação Oswaldo Cruz, Rio de Janeiro RJ, Brasil; 2MD, MSc, PhD, Instituto de Pesquisa Clínica Evandro Chagas, Fundação Oswaldo Cruz, Rio de Janeiro RJ, Brasil; 3 MD, PhD, Instituto de Pesquisa Clínica Evandro Chagas, Fundação Oswaldo Cruz, Rio de Janeiro RJ, Brasil; 4MD, MSc, PhD, Instituto(More)
OBJECTIVE Considering that water is an importance source of fluoride intake, and that the consumption of mineral water and prevalence of dental fluorosis have been increasing, the aim of this study was to evaluate the consumption of mineral water and its fluoride concentration. METHODS The study was performed in residential districts of the municipality(More)