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Cadernos de Saúde Pública

Print version ISSN 0102-311XOn-line version ISSN 1678-4464

Abstract

SOMMER, Camila K.; GOLDBECK, Ana Stela; WAGNER, Sandrine C.  and  CASTRO, Simone M.. Neonatal screening for hemoglobinopathies: a one-year experience in the public health system in Rio Grande do Sul State, Brazil. Cad. Saúde Pública [online]. 2006, vol.22, n.8, pp.1709-1714. ISSN 0102-311X.  http://dx.doi.org/10.1590/S0102-311X2006000800019.

Hemoglobinopathies are the most common inherited disorders in humans; the most frequent are hemoglobins S and C (Hb S and Hb C). Studies in Brazil show the high prevalence of Hb S and Hb C heterozygotes, indicating the need for diagnosis to allow medical care and suitable genetic counseling. This study evaluates the prevalence of hemoglobin patterns in different areas of Rio Grande do Sul State, Brazil, using neonatal data from the public health system. Blood samples from 117,320 newborns, obtained by heel stick, and 2,389 blood samples from parents of newborns, obtained by venopuncture, were submitted to IEF and HPLC. Among the newborns, 1,629 (1.4%) showed abnormal hemoglobin patterns: 1,342 FAS; 225 FAC; 45 FAD; 2 FSC; 1 FS and 26 variant hemoglobin heterozygotes. We conclude that the methods used are able to identify a broad variety of hemoglobin patterns with high specificity and sensitivity. The information is of paramount importance for transmitting knowledge in the public health field, besides facilitating planning and resource allocation.

Keywords : Hemoglobinopathies; Sickle Cell Anemia; Neonatal Screening.

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