Abstract
Sickle cell anaemia is one of the most common hemoglobinopathies worldwide and an important public health problem in Brazil. This study evaluated the prevalence of sickle cell anaemia and its traits in newborns from the Amazon-Savanna Transition Region in the state of Maranhão, Brazil. A cross-sectional study was carried out, based on data from neonatal screening tests performed in 2013–2015 in Maranhão. The Hardy-Weinberg theorem was applied to analyse the frequency of expected homozygotes based on HbSS phenotype. A spatial-temporal distribution analysis was performed to delimit the regions with the greatest number of newborn cases with sickle cell anaemia. Of 283,003 newborns, 162 were found to have sickle cell anaemia, while 10,794 had a sickle cell trait, with a prevalence of 0.05% and 3.8%, respectively. The prevalence of expected homozygotes was higher in the North Region and in the state capital of Maranhão. This study may contribute to existing social and public health actions or the creation of new strategies for sickle cell disease in endemic areas in Brazil to improve the quality of life.
Highlights
Due to its incidence and biopsychosocial complexity, sickle cell anaemia is considered one of the main public health problems worldwide [1]
Between 1 January 2013, and 31 December 2015, 349,176 children were born in the state of Maranhão, 283,003 of which participated in the Neonatal Screening Program
Among the newborns submitted to the test, 162 presented sickle cell anaemia (HbSS) and, in relation to the sickle cell trait, 10,794 had HbAS
Summary
Due to its incidence and biopsychosocial complexity, sickle cell anaemia is considered one of the main public health problems worldwide [1]. The mutations causing sickle cell anaemia and other hemoglobinopathies were previously non-existent in the Americas; the occurrence in Brazil is due to the trade of slaves from the African continent. In Brazil, the distribution of sickle cell anaemia is heterogeneous, with a higher incidence in states such as Maranhão with socio-demographic profiles featuring higher poverty indexes and greater numbers of individuals of African descent [2]. The disease is an autosomal recessive genetic disorder characterised by a change in the beta-globin gene, resulting in the production of abnormal haemoglobin. The haemoglobin change is caused by the substitution of glutamic acid by valine at position 6 of the polypeptide chain.
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