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AIM: The aim of this study was to estimate the prevalence of hemoglobinopathies in South Brazil. METHODS: Samples of dried blood spots collected by heel prick in neonates were evaluated by isoeletric focusing and/or high-performance liquid chromatography techniques. All variants were characterized at the molecular level. RESULTS: A total of 437,787 samples were evaluated. Among these, 6391 showed an abnormal hemoglobin pattern. These included 48 cases (0.01%) of sickle cell disorders (33 hemoglobin SS [Hb SS], 7 Hb SC, 7 Hb S/beta thalassemia, 1 Hb SD), 1 neonate who was homozygous for beta thalassemia, 6272 (1.4%) newborns who were heterozygous for Hb S, C, or D, and 71 (0.02%) neonates who were carriers for rare hemoglobin variants. Most of these rare variants were identified for the first time in Brazil. CONCLUSIONS: Comparing these results with those obtained in other Brazilian regions, we observe a highly heterogeneous distribution. This knowledge is useful in healthcare planning and allocation of resources, as well as identifying at-risk couples, which will assist with disease prevention.

Original publication




Journal article


Genet Test Mol Biomarkers

Publication Date





565 - 569


Brazil, DNA Mutational Analysis, Gene Frequency, Geography, Health Resources, Hemoglobinopathies, Humans, Infant, Infant, Newborn, Neonatal Screening, Program Evaluation, Public Health, beta-Globins