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Co-inheritance of alpha-thalassemia and sickle cell disease in a cohort of Angolan pediatric patients

2020-07Journal article Restricted access
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dc.contributor.authorSantos, Brígida
dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorFerreira, Joana
dc.contributor.authorGermano, Isabel
dc.contributor.authorMiranda, Armandina
dc.contributor.authorArez, Ana Paula
dc.contributor.authorFaustino, Paula
dc.contributor.authorBrito, Miguel
dc.date.accessioned2020-07-28T09:03:07Z
dc.date.available2020-07-28T09:03:07Z
dc.date.issued2020-07
dc.descriptionFundação Para a Ciência e Tecnologia / Aga Khan Development Network Project Number 330842553pt_PT
dc.description.abstractThe aim of this study was to explore the association between alpha-thalassemia, fetal hemoglobin, hematological indices, and clinical adverse events in Angolan sickle cell disease pediatric patients. A total of 200 sickle cell disease (SCD) children were sampled in Luanda and Caxito. A venous blood sample was collected and used for hematological analyses, fetal hemoglobin quantification, and genotyping of 3.7 kb alpha-thalassemia deletion by GAP-PCR. The frequency of the 3.7 kb alpha-thalassemia deletion in homozygosity was 12.5% and in heterozygosity was 55.0%. An increase in alpha-thalassemia frequency was observed in children older than 5 years old (11.7% vs. 13.00%). Furthermore, 3.7 kb alpha-thalassemia deletion homozygotes had a significantly higher age of the first manifestation, lower number of blood transfusions by year, higher hemoglobin, lower mean corpuscular volume, mean corpuscular hemoglobin, and lower hemolytic rate observed by a lower number of reticulocytes count. There were no differences in fetal hemoglobin between the three genotypes. Moreover, the number of stroke events, osteomyelitis, splenomegaly, splenectomy, and hepatomegaly were lower when alpha-thalassemia was co-inherited. For the first time in the Angolan population, the effect of alpha-thalassemia deletion in sickle cell disease was analyzed and results reinforce that this trait influences the hematological and clinical aspects and produces a milder phenotype.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationSantos B, Delgadinho M, Ferreira J, Germano I, Miranda A, Brito M, et al. Co-inheritance of alpha-thalassemia and sickle cell disease in a cohort of Angolan pediatric patients. Mol Biol Rep. 2020;47:5397-402.pt_PT
dc.identifier.doi10.1007/s11033-020-05628-8pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/12099
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.relationFundação Para a Ciência e Tecnologia / Aga Khan Development Network Project Number 330842553pt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007/s11033-020-05628-8pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectHematologypt_PT
dc.subject3.7 kb alpha-thalassemia deletionpt_PT
dc.subjectFetal hemoglobinpt_PT
dc.subjectSickle cell diseasept_PT
dc.subjectChildrenpt_PT
dc.subjectAngolapt_PT
dc.subjectFCT_Aga Khan (project no. 330842553)pt_PT
dc.titleCo-inheritance of alpha-thalassemia and sickle cell disease in a cohort of Angolan pediatric patientspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage5402pt_PT
oaire.citation.startPage5397pt_PT
oaire.citation.titleMolecular Biology Reportspt_PT
oaire.citation.volume47pt_PT
person.familyNameNeves Delgadinho
person.familyNameBrito
person.givenNameMariana Isabel
person.givenNameMiguel
person.identifierCAJ-5082-2022
person.identifier.ciencia-id231E-02E3-D9A9
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0003-0586-9154
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationca55aab6-9a58-4f79-ab79-20513414099f
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscoveryca55aab6-9a58-4f79-ab79-20513414099f

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