Hb H disease resulting from the association of an alpha(0)-thalassemia allele [-(alpha)(20.5)] with an unstable alpha-globin variant [Hb Icaria]: First report on the occurrence in Brazil

dc.creatorKimura, EM
dc.creatorOliveira, DM
dc.creatorFertrin, K
dc.creatorPinheiro, VR
dc.creatorJorge, SEDC
dc.creatorCosta, FF
dc.creatorSonati, MD
dc.date2009
dc.date2014-07-30T17:52:47Z
dc.date2015-11-26T17:39:55Z
dc.date2014-07-30T17:52:47Z
dc.date2015-11-26T17:39:55Z
dc.date.accessioned2018-03-29T00:21:33Z
dc.date.available2018-03-29T00:21:33Z
dc.identifierGenetics And Molecular Biology. Soc Brasil Genetica, v. 32, n. 4, n. 712, n. 715, 2009.
dc.identifier1415-4757
dc.identifierWOS:000272182700007
dc.identifier10.1590/S1415-47572009005000071
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/68611
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/68611
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1286582
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionHb H Disease is caused by the loss or inactivation of three of the four functional alpha-globin genes. Patients present chronic hemolytic anemia and splenomegaly. In some cases, occasional blood transfusions are required. Deletions are the main cause of this type of thalassemia (alpha-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common alpha(0) deletion [-(alpha)(20.5)] with a rare point mutation (c.427T > A), thus resulting in an elongated and unstable alpha-globin variant, Hb Icaria, (X142K), with 31 additional amino-acid residues. Very high levels of Hb H and Hb Bart's were detected in the patient's red blood cells (14.7 and 19.0%, respectively). This is the first description of this infrequent association in the Brazilian population.
dc.description32
dc.description4
dc.description712
dc.description715
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFAPESP [02/13801-7]
dc.languageen
dc.publisherSoc Brasil Genetica
dc.publisherRibeirao Pret
dc.publisherBrasil
dc.relationGenetics And Molecular Biology
dc.relationGenet. Mol. Biol.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjecthereditary hemoglobinopathies
dc.subjectalpha-thalassemia
dc.subjectHb H disease
dc.subjectHb Icaria
dc.subjectHemoglobin-variants
dc.subjectTermination Mutant
dc.subjectThalassemia
dc.subjectMutations
dc.titleHb H disease resulting from the association of an alpha(0)-thalassemia allele [-(alpha)(20.5)] with an unstable alpha-globin variant [Hb Icaria]: First report on the occurrence in Brazil
dc.typeArtículos de revistas


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