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

dc.contributorUniversidade Estadual Paulista (Unesp)
dc.contributorSanta Casa Med Sch
dc.date.accessioned2014-05-20T14:00:59Z
dc.date.accessioned2022-10-05T14:47:05Z
dc.date.available2014-05-20T14:00:59Z
dc.date.available2022-10-05T14:47:05Z
dc.date.created2014-05-20T14:00:59Z
dc.date.issued2010-10-01
dc.identifierArchives of Medical Science. Poznan: Termedia Publishing House Ltd, v. 6, n. 5, p. 822-825, 2010.
dc.identifier1734-1922
dc.identifierhttp://hdl.handle.net/11449/21547
dc.identifier10.5114/aoms.2010.17101
dc.identifierWOS:000283952200029
dc.identifier3279428066176719
dc.identifier0000-0002-4603-9467
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/3895318
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.
dc.languageeng
dc.publisherTermedia Publishing House Ltd
dc.relationArchives of Medical Science
dc.relation2.344
dc.relation0,889
dc.rightsAcesso aberto
dc.sourceWeb of Science
dc.subjectSickle cell disease
dc.subjectHbF expression
dc.subjectclinical manifestation
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 features
dc.typeArtigo


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