Percorrer por autor "Afonso, Roberto"
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- Implementation of a newborn screening for sickle cell disease, at the Hospital Materno Infantil Dr Manuel Pedro Azancot de Menezes, AngolaPublication . Brito, Miguel; Inusa, Baba P.; Ginete, Catarina; Mendes, Manuela; Afonso, Roberto; Valentim, Isabel; Siatembo, Adriano; Vasconcelos, Jocelyne NetoSickle Cell Disease (SCD) is a hereditary disease, and a worldwide public health problem, with a higher incidence in sub-Saharan Africa, where the prevalence is very high (about 80%). SCD prevalence can reach 3,3 % in Angola, while carriers of the sickle cell trait account for more than 25% of the population. The early identification of patients and their follow-up in consultation are an added value for the reduction of morbidity and mortality of children with SCD. The implementation of early infant screening and follow-up programs for children with SCD showed excellent results in increasing the survival of these children. With this project we intend to implement a Newborn screening in Hospital Materno Infantil Dr Manuel Pedro Azancot de Menezes, a referral of the main maternity in Angola, located in Luanda, the country capital, that could be replicated in other hospitals, giving training to the health professionals, and to the laboratory technicians, to diagnose the SCD patients. The objective of this project is to establish a neonatal screening for SCD at a main Hospital in Angola, contributing to reducing under-5 mortality and supporting pediatric follow-up consultations of children diagnosed with SCD. Specific aims include: recording the data and medical history of babies diagnosed with SCD up to 5 years of age at regular appointments; estimating the prevalence of SCD in the municipality of Camama, Luanda; and evaluating the costs of neonatal screening and early interventions in Angola, by supporting a registry of SCD.
- Newborn screening for sickle cell disease in a hospital setting in Luanda, Angola: local implementing learning from an international ConsortiumPublication . Brito, Miguel; Ginete, Catarina; Mendes, Manuela; Afonso, Roberto; Siatembo, Adriano; Neto-Vasconcelo, Jocelyne; Inusa, BabaEarly diagnosis of Sickle Cell Disease (SCD) is critical to reducing mortality and morbidity in affected children; however, it remains largely unavailable in Sub-Saharan Africa, where disease prevalence is highest. This severe monogenic recessive disorder has an estimated mortality rate of 50–90% by age five if left undiagnosed. The Lancet Haematology Commission strongly recommends that all children worldwide be screened for SCD by 2025. This work aims to share the results from implementing newborn screening for Sickle Cell Disease at Hospital Materno-Infantil Dr. Manuel Pedro Anzacot de Menezes, Angola.
- Newborn screening for sickle cell disease in Angola: implementation challenges and emerging data on hemoglobinopathy prevalencePublication . Brito, Miguel; Ginete, Catarina; Jacinto, Mariana; Mendes, Manuela; Soares, Hailton; Afonso, Roberto; Siatembo, Adriano; Vasconcelos, Jocelyne; Inusa, BabaSickle Cell Disease (SCD) is an autosomal recessive disorder with a substantial global burden. Despite its particularly high incidence in sub-Saharan Africa, early diagnosis remains limited in many countries. The objective of this study was to implement a newborn screening programme for SCD in one of the largest maternity hospitals in Angola and to support the subsequent pediatric follow-up of the affected children. Between June 2023 and December 2024, all children born in or attending the main hospital for vaccination were screened after parental or guardian consent. Blood was collected by heel-prick onto filter paper, and haemoglobin electrophoresis was performed by isoelectric focusing. Samples identified as HbSS were confirmed by PCR-RFLP, and atypical electrophoretic patterns were further analysed by DNA sequencing. In a total of 13,256 samples analysed, the prevalence of HbSS was 1.38% (n = 183), and 20.31% (n = 2692) were HbAS. Other variants identified (n = 44) included HbE, HbC, and α-globin gene alterations. Of the infants diagnosed with SCD, 106 (58%) families were successfully contacted, but only 76 (42%) children initiated regular medical follow-up and prophylactic treatment (penicillin, multivitamins, and vaccinations. 30 families (28%) declined treatment, and just one declined follow-up. These findings confirm the high prevalence of SCD in Angola and demonstrate the capacity of newborn screening programmes in reducing early morbidity and mortality. However, the substantial proportion of families refusing follow-up highlights the need for strengthened community health education to improve understanding of SCD.