Abstract
Background. Sickle cell anemia (SCA) is an inherited blood disorder that affects over 300,000 newborns worldwide every year, being particularly prevalent in Sub-Saharan Africa. Despite being a monogenic disease, SCA shows a remarkably high clinical heterogeneity. Several studies have already demonstrated the existence of some polymorphisms that can provide major clinical benefits, producing a mild phenotype. Moreover, the existence of distinct haplotypes can also influence the phenotype patterns of certain populations, leading to different clinical manifestations. Our aim was to assess the association between polymorphisms in genes previously related to SCA disease severity in an Angolan pediatric population. Methods. This study analyzed clinical and biological data collected from 192 Angolan children. Using NGS data, we classified the HBB haplotypes based on four previously described SNPs (rs3834466, rs28440105, rs10128556, and rs968857) and the genotype for the SNPs in HBG2 (rs7482144), BCL11A (rs4671393, rs11886868, rs1427407, rs7557939), HBS1L-MYB (rs66650371) and BGLT3 (rs7924684) genes. Results. The CAR haplotype was undoubtedly the most common HBB haplotype in our population. The HbF values and the ratio of gamma chains were statistically significant for almost all of the variants studied. We reported for the first time an association between rs7924684 in the BGLT3 gene and gamma chains ratio. Conclusions. The current findings emphasize the importance personalized medicine would have if applied to SCA patient care, since some of the variants studied might predict the phenotype and the overall response to treatment.
Highlights
Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA), 1649-016 Lisbon, Portugal; Abstract: Background
Introduction with regard to jurisdictional claims in Sickle cell anemia (SCA) is an inherited and life-threatening blood disorder that affects over 300,000 newborns worldwide every year [1,2]
The sample population consisted of 192 SCA Angolan children selected from a cohort from the Hospital Pediátrico David Bernardino and the Centro de Investigação em Saúde de Angola (CISA) at Hospital Geral do Bengo
Summary
Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA), 1649-016 Lisbon, Portugal; Abstract: Background. 1. Introduction with regard to jurisdictional claims in Sickle cell anemia (SCA) is an inherited and life-threatening blood disorder that affects over 300,000 newborns worldwide every year [1,2]. Introduction with regard to jurisdictional claims in Sickle cell anemia (SCA) is an inherited and life-threatening blood disorder that affects over 300,000 newborns worldwide every year [1,2] One of the first modifiers of disease severity to be discovered was the fetal hemoglobin (HbF), which is a strongly heritable trait [6,9] It is less than 1% in nonanemic persons, but these levels can vary considerably in an SCA patient and can be as high as 25%, producing a mild phenotype [10,11]. Higher HbF levels can provide major clinical benefits, published maps and institutional affiliations
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