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Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with Sickle Cell Anemia

2022-09-12Artigo científico Acesso restrito
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dc.contributor.authorGermano, Isabel
dc.contributor.authorSantos, Brígida
dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorGinete, Catarina
dc.contributor.authorLopes, Pedro
dc.contributor.authorArez, Ana Paula
dc.contributor.authorBrito, Miguel
dc.contributor.authorFaustino, Paula
dc.date.accessioned2023-01-11T12:08:35Z
dc.date.available2023-09-12T00:30:26Z
dc.date.issued2022-09-12
dc.description.abstractSickle Cell Anemia (SCA) is a genetic disease caused by the c.20 A > T mutation in HBB gene, generally characterized by sickle erythrocytes, chronic hemolytic anemia, and vaso-occlusive events. This study aimed to investigate genetic modulators of anemia severity, chronic hemolytic rate, and clinical manifestations in pediatric SCA patients from Angola, where the disease is a severe public health problem. The study was conducted on 200 SCA children living in Luanda or Caxito province. Their clinical phenotype as collected from patients’ hospital records. Hematological and biochemical phenotypes were characterized in steady state condition. Twelve polymorphic regions in VCAM1, CD36 and NOS3 genes were genotyped using PCR, RFLP, and Sanger sequencing. CD36 gene promoter variants showed a significant impact on anemia severity. Particularly, the rs1413661_C allele was associated with lower hemoglobin levels, and increased number of hospitalizations and transfusions. This is the first report associating this SNP with SCA phenotypic heterogeneity. Moreover, the rs1041163_C allele in VCAM1 was associated with lower LDH levels; inversely the rs2070744_C allele in NOS3 was related with higher LDH levels and number of hospitalizations, being a risk factor for increased hemolytic rate. This study highlights, for the first time in the Angolan population, the importance of the genetic modifiers of vascular cell adhesion and nitric oxide metabolism in SCA pediatric phenotypic variability.pt_PT
dc.description.sponsorshipThis work was partially supported by the Fundação Para a Ciência e a Tecnologia/Aga Khan Development Network, Grant number 330842553pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMol Biol Rep . 2022 Nov;49(11):10347-10356. doi: 10.1007/s11033-022-07831-1. Epub 2022 Sep 12pt_PT
dc.identifier.doi10.1007/s11033-022-07831-1pt_PT
dc.identifier.issn0301-4851
dc.identifier.urihttp://hdl.handle.net/10400.18/8427
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007/s11033-022-07831-1pt_PT
dc.subjectSickle Cell Anemiapt_PT
dc.subjectGenetic Modifierspt_PT
dc.subjectHemolytic Anemiapt_PT
dc.subjectDrepanocitosept_PT
dc.subjectModificadores Genéticospt_PT
dc.subjectAngolapt_PT
dc.subjectAnemia Hemolíticapt_PT
dc.subjectPolimorfismos Genéticospt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectAngolapt_PT
dc.subjectAnemia das Células Falciformespt_PT
dc.subjectModuladores Genéticospt_PT
dc.titleGenetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with Sickle Cell Anemiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage10356pt_PT
oaire.citation.issue11pt_PT
oaire.citation.startPage10347pt_PT
oaire.citation.titleMolecular Biology Reportspt_PT
oaire.citation.volume49pt_PT
person.familyNameFaustino
person.givenNamePaula
person.identifier.ciencia-idF01A-353A-433E
person.identifier.orcid0000-0002-6269-4867
person.identifier.ridM-3519-2014
person.identifier.scopus-author-id8158641100
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication94303e78-8b7d-4e24-811d-3af3b1a4e330
relation.isAuthorOfPublication.latestForDiscovery94303e78-8b7d-4e24-811d-3af3b1a4e330

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