Incidência das hemoglobinopatias no estado de Mato Grosso do Sul: retrospecção com 288.753 recém-nascidos

Abstract

Objective: evaluate the incidence and spatial distribution of hemoglobinopathies in live newborns (NBs) based on Neonatal Screening in the state of Mato Grosso do Sul (MS), Brazil. Methods: This is a descriptive and retrospective cross-sectional observational study consisting of 288,753 live NB screened in MS between 2015 and 2022. Biological samples on filter paper were screened by high-performance liquid chromatography (HPLC) and confirmed by molecular analysis. The NB data were analyzed using IBM SPSS Statistics 25.0 software, using the qui-square test (X2). The Global Moran index and the univariate and bivariate local indicator of spatial autocorrelation by municipality and color or race data were applied, accepting the significance of p<0.05. Results: 7,527 (2.61%) screened NB were diagnosed with hemoglobinopathies, with an incidence of 1:38.4 NB. Sixteen abnormal hemoglobin profiles were identified, of which 11 can be considered rare due to the frequency of less than 10 NB affected in the analyzed period. Asymptomatic hemoglobinopathies had an incidence of 1:39 NB, mild symptomatic hemoglobinopathies of 1:22:212 NB, and severe hemoglobinopathies of 1:4,734 NB. HbS was the most frequent variant, with an allele frequency of 1:32.7 NB. Conclusions: The divergent incidence and distribution of hemoglobinopathies in MS compared to other states and their own health macroregions highlight the heterogeneity of the aspects evaluated. The importance of epidemiological studies is also justified by providing knowledge for health policies aimed at ensuring full patient access to screening services.