Triagem neonatal para doença falciforme e outras hemoglobinopatias / Neonatal screening for sickle cell disease and others hemoglobinopathies

AUTOR(ES)
DATA DE PUBLICAÇÃO

2006

RESUMO

The hemoglobinopathies are the genetic pathology of higher prevalence in the human race, and among them the most frequent is the Sickle Cell Disease, reaching frequency of at least 1 in 500 individuals of the black race. In Brazil there are the presence of 6.000.000 carriers for this disease. With the neonatal screening, we can evaluate the real frequency of hemoglobin alterations. We obtain the results of 12 years of work, from the neonatal screening for hemoglobinopathies, in the period between August 28, 1992 and December 31, 2004. Initially, the screening for hemoglobinopathies was carried by the electrophoresis in cellulose acetate in blood samples from the umbilical cord at birth. More recently, this technique was replaced by isoelectric focusing on agarose gel, in blood samples collected in filter paper by hell pick in children after 48 hours of life. We screened the 433,306 newborn samples in the study period and 128 patients with sickle cell disease were identified and refered to Sickle Cell Disease Attention Program. In 7.494 newborn the sickle trait was identified, corresponding to 1,73% incidence. In addition, the C trait carrier was found, corresponding to 0,53% incidences

ASSUNTO(S)

triagem neonatal hemoglobinopatia newborn electrophoresis eletroforese neonatal screening hemoglobinopathy recem-nascidos

ACESSO AO ARTIGO

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