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Revista Brasileira de Hematologia e Hemoterapia

Print version ISSN 1516-8484

Abstract

SOUZA, Renata A. Volpe de; PRATESI, Riccardo  and  FONSECA, Silvana F.. Neonatal screening program for hemoglobinopathies in Dourados, MS: an analysis. Rev. Bras. Hematol. Hemoter. [online]. 2010, vol.32, n.2, pp. 126-130.  Epub May 07, 2010. ISSN 1516-8484.  http://dx.doi.org/10.1590/S1516-84842010005000037.

Although the benefits of implanting a neonatal screening program for hemoglobinopathies are well defined, there are many studies that point to failures in these programs. The objective of this study was to evaluate the efficiency of the neonatal screening program for hemoglobinopathies in the municipality of Dourados, in the state of Mato Grosso do Sul, Brazil. Between January 2000 and December 2005, thirty-two families with children diagnosed during neonatal screening as having hemoglobinopathies were evaluated using questionnaires. Additionally, the coverage of the Brazilian National Neonatal Screening Program and the incidence rates of hemoglobinopathies in the state of Mato Grosso do Sul between 2000 and 2005 were analyzed. Of the 242 cases of hemoglobinopathies that were diagnosed in this period, 1.37% individuals were identified as heterozygotes for hemoglobin S, 0.37% for hemoglobin C, and 0.07% for hemoglobin D. There were no cases of sickle cell anemia diagnosed during this period. The program was found to be positive and provided a broad coverage of 81.4%. Some failures were detected such as not requiring patients to return for confirmation examinations, the lack of medical counseling and follow through, lack of investigations of family histories, and lack of understanding on the part of the family of the genetic counseling they received.

Keywords : Neonatal screening; hemoglobinopathies; program evaluation.

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