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Sickle cell anemia - nitric oxide related genetic modifiers of hematological and biochemical parameters

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dc.contributor.authorAguiar, Laura
dc.contributor.authorMatos, Andreia
dc.contributor.authorGil, Ângela
dc.contributor.authorAfonso, Conceição
dc.contributor.authorBraga, Lígia
dc.contributor.authorLavinha, João
dc.contributor.authorKjollerstrom, Paula
dc.contributor.authorFaustino, Paula
dc.contributor.authorBicho, Manuel
dc.contributor.authorInácio, Ângela
dc.date.accessioned2017-02-14T14:19:39Z
dc.date.available2017-02-14T14:19:39Z
dc.date.issued2016
dc.description.abstractBACKGROUND: Sickle cell anemia (SCA) is an inherited blood disorder. SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene. Others genetic modifiers and environmental effects are important for the clinical phenotype. SCA patients present arginine deficiency that contributes to a lower nitric oxide (NO) bioactivity. OBJECTIVE: The aim of this work is to determine the association between hematological and biochemical parameters and genetic variants from eNOS gene, in pediatric SCA patients. METHODS: 26 pediatric SCA patients were genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques in three important eNOS gene polymorphisms - rs2070744, rs1799983 and intron 4 VNTR. RESULTS: Results from this study show a significant statistical association between some parameters and genetic variants: an increased reticulocyte count and high serum lactate dehydrogenase levels were associated with both the rs2070744 TTand the rs1799983 GG genotypes at eNOS gene and high levels of neutrophils were associated with the eNOS4a allele. CONCLUSIONS: Our results reinforce the importance of NO bioactivity in SCA. We presume that NO, and its precursors might be used as therapy to improve the quality of life of SCA patients.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationClin Hemorheol Microcirc. 2016;64(4):957-963. doi: 10.3233/CH-168008pt_PT
dc.identifier.doi10.3233/CH-168008pt_PT
dc.identifier.issn1386-0291
dc.identifier.urihttp://hdl.handle.net/10400.18/4164
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherIOS Presspt_PT
dc.relation.publisherversionhttp://content.iospress.com/articles/clinical-hemorheology-and-microcirculation/ch168008pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectSickle Cell Diseasept_PT
dc.subjectGenetic Modifierspt_PT
dc.subjectjavascript:void(null);pt_PT
dc.subjectNitric Oxidept_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectDrepanocitosept_PT
dc.titleSickle cell anemia - nitric oxide related genetic modifiers of hematological and biochemical parameterspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage963pt_PT
oaire.citation.startPage957pt_PT
oaire.citation.titleClinical Hemorheology and Microcirculationpt_PT
oaire.citation.volume64(4)pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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