“…Preventive measures, including newborn screening, educating caregivers and patients, counseling on diet, immunization and prophylaxis with penicillin to prevent pneumococcal infection, and even the transplantation of hematopoietic stem cells contribute to reduce morbidity and mortality and improve quality of life. (18,19) Another aspect addressed by the government and defended by many healthcare professionals is genetic counseling, which, when performed within the proper ethical framework, enables individuals and their families to make informed and balanced decisions about childbearing. (20)(21)(22) This is, therefore, one primarily goal of care, which may or may not have preventive consequences.…”
Sickle cell disease is a genetic disease that originated in several different regions, in particular African communities. The disease is present in the Brazilian population. The large number of heterozygotes and the severe clinical symptoms of homozygotes have drawn special attention from the government institutions in Brazil. Since the genetic origin of the disease was elucidated, sickle cell disease has become the focus of an every-growing number of scientific investigations. This investigation was performed to correlate the presence of the sickle cell trait in inhabitants of São José dos Campos, Brazil, with data on immigrants. The study sample consisted of 93,604 blood donors of the Hematology and Hemotherapy Service in São José dos Campos from 2004 to 2008. An analysis of the donors identified 400 heterozygous individuals with the sickle cell trait (Hb S-0.43%) but no homozygotes. The results are completely different from the national pattern and are strongly supported by local history.
“…Preventive measures, including newborn screening, educating caregivers and patients, counseling on diet, immunization and prophylaxis with penicillin to prevent pneumococcal infection, and even the transplantation of hematopoietic stem cells contribute to reduce morbidity and mortality and improve quality of life. (18,19) Another aspect addressed by the government and defended by many healthcare professionals is genetic counseling, which, when performed within the proper ethical framework, enables individuals and their families to make informed and balanced decisions about childbearing. (20)(21)(22) This is, therefore, one primarily goal of care, which may or may not have preventive consequences.…”
Sickle cell disease is a genetic disease that originated in several different regions, in particular African communities. The disease is present in the Brazilian population. The large number of heterozygotes and the severe clinical symptoms of homozygotes have drawn special attention from the government institutions in Brazil. Since the genetic origin of the disease was elucidated, sickle cell disease has become the focus of an every-growing number of scientific investigations. This investigation was performed to correlate the presence of the sickle cell trait in inhabitants of São José dos Campos, Brazil, with data on immigrants. The study sample consisted of 93,604 blood donors of the Hematology and Hemotherapy Service in São José dos Campos from 2004 to 2008. An analysis of the donors identified 400 heterozygous individuals with the sickle cell trait (Hb S-0.43%) but no homozygotes. The results are completely different from the national pattern and are strongly supported by local history.
Este artigo tem por objetivo discorrer sobre a relação entre a doença falciforme (DF) e as úlceras dermatológicas, demonstrando a importância da especialidade de dermatologia devido ao fato de muitas doenças, inclusive de outras especialidades, também poderem possuir manifestações na pele. A relevância desse estudo justifica-se pela necessidade de embasamento teórico para o cuidado desses pacientes e pelo fato de o traço falciforme ser bastante frequente em muitas regiões do Brasil, pois houve uma miscigenação histórica do povo brasileiro. Foi realizada uma revisão não sistemática de diferentes fontes de pesquisas, como revistas científicas, livros, periódicos, artigos científicos publicados, dentre outros, sobre o assunto nas últimas décadas. A metodologia utilizada foi a seleção qualitativa das informações que fossem pertinentes para o embasamento da prática clínica diária do dermatologista e do médico geral, pois o objetivo principal desse artigo é conseguir revisar e reunir informações úteis para prática médica junto ao paciente com DF e úlceras dermatológicas. Conclui-se que o conhecimento dermatológico deve ser difundido para as outras especialidades médicas e que a dermatologia deve sempre estar ao dispor da sociedade para ajudar nos cuidados das pessoas, pois como no exemplo da Doença Falciforme, muitas outras doenças possuem manifestações também dermatológicas
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