Background: The porphyria is a group of rare metabolic disorders that arise from deficiencies in the heme biosynthetic pathway. The prevalence in Europe is 1-2:100,000 inhabitants. These disorders occur mostly due to mutations in the genes encoding enzymes involved in heme production. [HEP]). AIP is the most common form of hepatic porphyria and symptoms are often begin after puberty and consist of acute neurovisceral signs, abdominal pain, vomiting, constipation, tachycardia, fever, hypertension and alterations in the central nervous system. Aim:To study the porphyria frequency in Brazil by Associação Brasileira de Porfiria (ABRAPO-Brazilian Porphyria Association). Methods:We study the frequency of porphyria in 439 cases of patients with porphyria diagnosis from ABRAPO from 2007 to 2015 and data were analyzed with Microsoft Excel® program. Results:We analyzed 439 cases consisting of 74.2% female. 59% percent had been diagnosed with AIP, 22% PCT, 4% HCP, 4% EPP, 2.5% VP, 1.1% CEP, 0.9% HEP and 0.4% ALADP. Conclusion:Our analysis revealed similar epidemiological characteristics as seen in the United States and United Kingdom. In Brazil, porphyria should be studied more carefully to assess, properly diagnosis and treatment.
As talassemias compreendem os distúrbios genéticos da síntese de hemoglobina caracterizados por redução parcial ou total na produção de uma ou mais cadeias polipeptídicas de globina. A maioria dos heterozigotos para talassemia beta são assintomáticos e desconhecem o defeito genético do qual são portadores. Existe uma deficiência no diagnóstico clínico-laboratorial para a investigação dessa doença que acomete uma parcela significativa da população brasileira. Dessa maneira, o diagnóstico precoce continua sendo um grande instrumento para aumentar a proteção ao portador de talassemia. Os objetivos deste trabalho são investigar uma família da cidade de Itapiranga, SC, quanto à presença do traço talassêmico e realizar uma breve revisão da literatura sobre a importância do diagnóstico precoce e do aconselhamento genético na conscientização dos portadores de anemias hereditárias. É relatado um caso de traço talassêmico em um homem de 42 anos de idade, e a importância do diagnóstico precoce e do aconselhamento genético na conscientização dos portadores de anemias hereditárias é revisado.
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