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Revista Brasileira de Hematologia e Hemoterapia

Print version ISSN 1516-8484

Abstract

BACKES, Carlos Eduardo et al. The importance of the hemoglobinopathy detection in National Neonatal Screening Programs. Rev. Bras. Hematol. Hemoter. [online]. 2005, vol.27, n.1, pp. 43-47. ISSN 1516-8484.  http://dx.doi.org/10.1590/S1516-84842005000100011.

Studies performed in the Brazilian population show that in Brazil there are around 10 million heterozygote individuals for the Hb S and Hb C genes and beta thalassemia. Although, over 700 hemoglobin variants have been described, only homozygous states for Hb S present significant and evident clinical disorders. Furthermore, the heterozygous Hb AS and Hb SC forms have important public health aspects. In general heterozygous individuals of hemoglobin variants (AS, AC) do not know that they have hemoglobin disorders because they are asymptomatic, therefore they facilitate the spread of these anomalous genes and interactions with other hemoglobin variants: thalassemias, enzymopathies and spherocytosis. As a preventive measure for hemoglobinopathy control, the Brazilian Health Ministry instituted a Directive that includes hemoglobinopathies in the National Neonatal Screening Program (PNTN). The aim of this work was to analyze the incidence of the hemoglobinopathies in newborn infants from January to June, 2003 in the State of Santa Catarina. A total of 40,028 samples from newborn infants were analyzed, 399 (1%) presented hemoglobinopathies as follows: 88.47% AS; 7.76% AC; 2.25% AD; 0.75% SS and 0.5% SC phenotypes. Screening for hemoglobinopathies represents an important tool for the prevention of hemoglobinopathies, which is a public health problem in Brazil.

Keywords : Hemoglobinopathies; neonatal screening; public health.

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