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

2020-07-06Journal 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.authorFaustino, Paula
dc.contributor.authorBrito, Miguel
dc.date.accessioned2021-03-07T16:49:16Z
dc.date.available2021-03-07T16:49:16Z
dc.date.issued2020-07-06
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 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.sponsorshipThis work was supported by the Fundação Para a Ciência e Tecnologia I.P./Aga Khan Development Network Project Number 330842553.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMol Biol Rep. 2020;47(7):5397-5402. doi: 10.1007/s11033-020-05628-8. Epub 2020 Jul 6.pt_PT
dc.identifier.doihttps://doi.org/10.1007/s11033-020-05628-8pt_PT
dc.identifier.eissn1573-4978
dc.identifier.issn0301-4851
dc.identifier.urihttp://hdl.handle.net/10400.18/7356
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.relation330842553pt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007%2Fs11033-020-05628-8pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subject3.7 kb alpha-thalassemia Deletionpt_PT
dc.subjectalfa-talassémiapt_PT
dc.subjectFetal Hemoglobinpt_PT
dc.subjectSicke Cell Diseasept_PT
dc.subjectAngolapt_PT
dc.subjectHemoglobinopatiaspt_PT
dc.subjectDrepanocitosept_PT
dc.subjectAnemias Hereditáriaspt_PT
dc.subjectDoenças Genéticaspt_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.issue7pt_PT
oaire.citation.startPage5397pt_PT
oaire.citation.titleMolecular Biology Reportspt_PT
oaire.citation.volume47pt_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.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication94303e78-8b7d-4e24-811d-3af3b1a4e330
relation.isAuthorOfPublication.latestForDiscovery94303e78-8b7d-4e24-811d-3af3b1a4e330

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