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Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with sickle cell anemia

2022-09Journal article Open access
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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.accessioned2022-09-19T11:10:29Z
dc.date.available2022-09-19T11:10:29Z
dc.date.issued2022-09
dc.descriptionFCT_Aga Khan Development Network, grant number 330842553.pt_PT
dc.description.abstractBackground: Sickle Cell Anemia (SCA) is a genetic disease caused by the c.20 A > T mutation in the 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. Methods and Results: The study was conducted on 200 SCA children living in Luanda or Caxito province. Their clinical phenotype was collected from patients' hospital records. Hematological and biochemical phenotypes were characterized in steady-state conditions. 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 an 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 to higher LDH levels and a number of hospitalizations, being a risk factor for increased hemolytic rate. Conclusion: 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.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGermano I, Santos B, Delgadinho M, Ginete C, Lopes P, Brito M, et al. Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with sickle cell anemia. Mol Biol Rep. 2022;49:10347-56.pt_PT
dc.identifier.doi10.1007/s11033-022-07831-1pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/14974
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.relationFCT_Aga Khan Development Network, grant number 330842553pt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007/s11033-022-07831-1pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectSickle cell anemiapt_PT
dc.subjectHemolytic anemiapt_PT
dc.subjectGenetic modifierspt_PT
dc.subjectChildrenpt_PT
dc.subjectFCT_Aga Khan (project no. 330842553)pt_PT
dc.subjectAngolapt_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.startPage10347pt_PT
oaire.citation.titleMolecular Biology Reportspt_PT
oaire.citation.volume49pt_PT
person.familyNameNeves Delgadinho
person.familyNameHonrado Ginete
person.familyNameBrito
person.givenNameMariana Isabel
person.givenNameAna Catarina
person.givenNameMiguel
person.identifierCAJ-5082-2022
person.identifier.ciencia-id231E-02E3-D9A9
person.identifier.ciencia-id8715-F62E-1E0F
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0003-0586-9154
person.identifier.orcid0000-0002-2334-782X
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationca55aab6-9a58-4f79-ab79-20513414099f
relation.isAuthorOfPublicationdfb2fbba-17ff-42fb-905a-fcfc8f326e1c
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscoveryca55aab6-9a58-4f79-ab79-20513414099f

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