科研之友
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摘要
background: hemoglobinopathies are the most common genetic disorders in humans and hb s is the most frequent among them. its occurrence in the state of mato grosso do sul has not been systematically analyzed yet. objectives: to describe the occurrence of hemoglobin s according to genotypes, gender, age at the moment of diagnosis, cover index and prevalence in the state of mato grosso do sul. material and method: retrospective, transversal and descriptive study of the results of neonatal screening for hemoglobinopathies performed with high pressure liquid chromatography technique at instituto de pesquisa, ensino e diagn車sticos da associaˋˋo dos pais e amigos dos excepcionais (iped/apae) in the state of mato grosso do sul (2000-2005). results: among 190,809 screened individuals, 2,624 (1.38%) showed alterations, 2,385 were neonates and 239 were children aged 28 days or more. there was no difference in gender (1,335 females and 1,289 males). the altered genotypes were fas (99.16%), fs (0.61%) and fsc (0.23%). conclusion: this first study of neonatal screening in the state of mato grosso do sul revealed that the state program developed by iped/apae has been consolidating and advancing as to cover index and early diagnosis. these indicators may be the basis for preventive (genetic counseling and family studies) and assistance measures (continuous ambulatory treatment), which aim at the reduction of morbimortality in individuals with these hemoglobinopathies in the state.
