The Xmnl polymorphic site 5 ' to the gene G gamma in a Brazilian patient with sickle cell anaemia - fetal haemoglobin concentration, haematology and clinical features

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dc.contributor.authorBelini Junior, Edis [UNESP]
dc.contributor.authorCancado, Rodolfo D.
dc.contributor.authorDomingos, Claudia R. B. [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionSanta Casa Med Sch
dc.date.accessioned2014-05-20T14:00:59Z
dc.date.available2014-05-20T14:00:59Z
dc.date.issued2010-10-01
dc.description.abstractWe report a 20-year-old female with sickle cell anaemia and with an HbF concentration of 15.8%. The patient was not using hydroxyurea and was not receiving regular blood transfusions. The patient never had chronic manifestations of sickle cell anaemia, only pain crises of a mild intensity. After laboratory tests, we found that she was homozygous for HbS with the Bantu/atypical haplotype, and was heterozygous for the Xmnl site. The influence of the Xmnl site on the expression of HbF can explain the amelioration in clinical features in this haplotype association in a case of sickle cell anaemia.en
dc.description.affiliationUNESP São Paulo State Univ, Dept Biol, BR-15054000 Sao Jose do Rio Preto, SP, Brazil
dc.description.affiliationSanta Casa Med Sch, São Paulo, Brazil
dc.description.affiliationUnespUNESP São Paulo State Univ, Dept Biol, BR-15054000 Sao Jose do Rio Preto, SP, Brazil
dc.description.sponsorshipBrazilian Ministry of Health
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipIdBrazilian Ministry of Health: MS 3072/2007
dc.description.sponsorshipIdCNPq: 132573/2008-3
dc.format.extent822-825
dc.identifierhttp://dx.doi.org/10.5114/aoms.2010.17101
dc.identifier.citationArchives of Medical Science. Poznan: Termedia Publishing House Ltd, v. 6, n. 5, p. 822-825, 2010.
dc.identifier.doi10.5114/aoms.2010.17101
dc.identifier.issn1734-1922
dc.identifier.lattes3279428066176719
dc.identifier.orcid0000-0002-4603-9467
dc.identifier.urihttp://hdl.handle.net/11449/21547
dc.identifier.wosWOS:000283952200029
dc.language.isoeng
dc.publisherTermedia Publishing House Ltd
dc.relation.ispartofArchives of Medical Science
dc.relation.ispartofjcr2.344
dc.relation.ispartofsjr0,889
dc.rights.accessRightsAcesso aberto
dc.sourceWeb of Science
dc.subjectSickle cell diseaseen
dc.subjectHbF expressionen
dc.subjectclinical manifestationen
dc.titleThe Xmnl polymorphic site 5 ' to the gene G gamma in a Brazilian patient with sickle cell anaemia - fetal haemoglobin concentration, haematology and clinical featuresen
dc.typeArtigo
dcterms.licensehttp://www.termedia.pl/Journal/Archives_of_Medical_Science-19/Dla_autorow
dcterms.rightsHolderTermedia Publishing House Ltd
unesp.author.lattes3279428066176719[3]
unesp.author.orcid0000-0002-4603-9467[3]
unesp.author.orcid0000-0001-6478-8173[1]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências Letras e Ciências Exatas, São José do Rio Pretopt

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