Abstract
ABSTRACTObjectiveTo evaluate the incidence of variant hemoglobins in different health regions.MethodsA descriptive, observational, and cross-sectional study with a quantitative approach based on secondary data in the internal records of the neonatal screening service - Laboratório Central de Saúde Pública do Estado do Piauí (PI, Brazil). The variables related to sex, ethnicity and positive diagnosis for variant hemoglobins were analyzed, with further population distribution of hemoglobinopathies among the macroregions of the state.ResultsA total of 69,180 samples of newborns were analyzed, and 3,747 were diagnosed as hemoglobinopathies, from February 1st, 2014 and December 31st, 2015. Sickle cell trait was the most frequent (4.1%), followed by hemoglobinopathy C in 0.9%; homozygous hemoglobin S cases 0.1% stood out and there were no cases of hemoglobinopathy D in the state. It is also worth noting that the highest frequencies of hemoglobin alterations in Piauí were in males (49.8%) and of parda skin color (38.5%). The region of Piauí presenting the highest incidence of heteroygous variant hemoglobins was Tabuleiros do Alto Parnaíba and Vale do Sambito, due to importance of the region's population Entre Rios.ConclusionNeonatal screening programs are important for screening, orientations regarding health actions and monitoring of families with hemoglobinopathies, in order to reduce morbidity and mortality rates.
Highlights
Hemoglobinopathies are clinical conditions that result from structural and functional mutations in the genes that codify globin chains of the hemoglobin (Hb) molecule present in red blood cells.[1]
The European parental contribution predominates in estimates made for the formation of the population, followed by African, and in a smaller proportion, Indigenous participation.[8] considering that the frequency of hemoglobinopathies in newborns in the State of Piaui is unknown, as well as the relevance of early laboratory diagnosis of these pathologies, this study aimed to study the incidence of variant hemoglobins in newborns in Piauí
Included in the study were all the data related to the period from February 1st, 2014, to December 31st, 2015, on neonatal screening for hemoglobinopathies produced by LACEN-PI, due to the implementation of the second phase of the screening program know as the Guthrie heel-prick test in the State of Piauí
Summary
Hemoglobinopathies are clinical conditions that result from structural and functional mutations in the genes that codify globin chains of the hemoglobin (Hb) molecule present in red blood cells.[1]. In Brazil, the introduction of hemoglobinopathies occurred through the forced immigration of African slaves and the subsequent racial mixture among different population groups, contributing towards the distribution of abnormal genes of globins inherent to the different ethnic groups, and resulting in the overall picture of hemoglobin disorders present in the country today.[4]. For this reason, the Brazilian population is characterized by several racial origins, diversified degrees of miscegenation, and large-scale genetic heterogeneity. We emphasize that according to data from the year 2000 census on the classification of skin color or race, black or “pardo” (brownish) individuals represent 45% of the Brazilian population.[5,6,7]
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