SummaryAlthough 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. Mortality data and clinical/laboratorial effects of hydroxycarbamide were retrospectively collected for the first 9 years of the Program. Mortality among those who received hydroxycarbamide was compared to that of untreated children. Among 1760 subjects, 267 received hydroxycarbamide at a median dose of 20Á8 mg/kg/d (range 10-32) for a median of 2 years (range 0Á1-6Á5). Survival among hydroxycarbamide-treated children was significantly greater than that among untreated ones (99Á5% vs. 94Á5%, P = 0Á01), due primarily to fewer deaths from acute chest syndrome and infection. Hydroxycarbamide therapy was significantly associated with increases in haemoglobin concentration, fetal haemoglobin, mean corpuscular volume, and reduction in platelet counts, reticulocytes and neutrophils. Toxicity was minimal and predominantly mild reversible neutropenia. Significantly fewer hospitalizations and emergency room visits, and shorter admissions were observed among hydroxycarbamide-treated subjects, when compared to the 12-month period prior to treatment initiation. Hydroxycarbamide therapy reduces disease severity and is probably associated with decreased mortality among children with SCD.

ObjectiveTo determine the mortality rate of children, adolescents and adults with sickle cell anemia in Rio de Janeiro, Brazil.MethodsThe number of deaths, the mortality rate and the causes of deaths in patients with sickle cell anemia who were treated and followed up at our institution for 15 years were determined and compared to data available for the Brazilian population.ResultsThe overall number of deaths was 281 patients with a mortality rate of 16.77%. Survival probability was significantly higher in females. The number of deaths and the mortality rate were age-specific with a significant increase in the 19- to 29-year-old age group. The remaining life expectancy of the patients with sickle cell anemia was less than that of Brazilians at large. The gap between the two was about 20 years for ages between one and five years with this gap decreasing to ten years after the age of 65 years. The most common causes of death were infection, acute chest syndrome, overt stroke, organ damage and sudden death during painful crises.ConclusionTo the best of our knowledge, this is the first Brazilian study in a single institution in Rio de Janeiro; the mortality rate was 18.87% among adult patients with sickle cell anemia. The mortality rates in children and adults are higher than those reported in developed countries of the northern hemisphere.

Objetivo. Descrever os principais resultados do programa de triagem neonatal para a doença falciforme do Estado do Rio de Janeiro em 15 meses de funcionamento (agosto de 2000 a novembro de 2001 Conclusões. Nossos dados evidenciam a importância do diagnóstico precoce da doença falciforme, de forma a prevenir e evitar as freqüentes complicações infecciosas enfrentadas por esses pacientes.Globinas, genética, anemia hemolítica congênita. RESUMOAs hemoglobinopatias compreendem um grupo de distúrbios hereditá-rios que afetam os genes responsáveis pela síntese globinas. Esses distúrbios são expressos como uma alteração qualitativa ou quantitativa da síntese das globinas, com menor sobrevida das hemácias e conseqüente anemia crônica. A incidência das hemoglobinopatias 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, dupla heterozigose SC, S beta talassemia e SD) é a patologia hereditária monogênica mais freqüente e a mais impactante, por sua alta prevalência e pela gravidade de suas manifestações clí-nicas. A doença atinge aproximadamente 2% da população da África equatorial. Antes da instalação de programas de triagem neonatal, apenas 2% das crianças doentes atingiam 5 anos de idade, sendo a infecção bacteriana a maior causa de complicações nesses pacientes, seguida por febre, seqüestro esplênico e síndrome mão-pé. Esses programas apontam para prevalência média de 2% da população triada (2). A doença é causada por uma mutação no gene da globina beta, que Palavras-chave

Approximately 3500 children with sickle cell disease (SCD) are born in Brazil each year, but the burden of SCD morbidity is not fully characterised. A large, multi-centre cohort was established to characterise clinical outcomes in the Brazilian SCD population and create the infrastructure to perform genotype-phenotype association studies. Eligible patients were randomly selected from participating sites and recruited at routine visits. A biorepository of blood samples was created and comprehensive demographic and clinical outcome data were entered in a centralized electronic database. Peripheral blood genome-wide single nucleotide polymorphism (SNP) genotyping was performed using a customized Transfusion Medicine (TM) Array. A total of 2795 participants at six Brazilian sites were enrolled between 2013 and 2015. The cohort included slight predominance of children <18 years (55·9%) and females (53·0%). Haemoglobin (Hb) SS was the most common SCD genotype (70·7%), followed by HbSC (23%), Sβ0 (3·0%) and Sβ+ (2·9%). SNP data from the TM Array were analysed to evaluate the genetic ancestry of the cohort and revealed significant admixture among the population. Demographics and clinical complications, stratified by age and SCD genotype, are summarized and future studies in this cohort are discussed.

Data collected during the 10 years of the program showed reduction in mortality of patients with SCD in comparison to available historical statistical data before the implementation of the national screening program. This 10-year study showed that early diagnosis and treatment of newborns was associated with improved survival and quality of life of Brazilian children with SCD.