Hb H Disease Resulting From The Association Of An α-thalassemia Allele [-(α)] With An Unstable α-globin Variant [hb Icaria]: First Report On The Occurrence In Brazil.

dc.creatorKimura, Elza M
dc.creatorOliveira, Denise M
dc.creatorFertrin, Kleber
dc.creatorPinheiro, Valéria R
dc.creatorJorge, Susan E D C
dc.creatorCosta, Fernando F
dc.creatorde Fátima Sonati, Maria
dc.date2009-Oct
dc.date2015-11-27T13:15:50Z
dc.date2015-11-27T13:15:50Z
dc.date.accessioned2018-03-29T01:09:55Z
dc.date.available2018-03-29T01:09:55Z
dc.identifierGenetics And Molecular Biology. v. 32, n. 4, p. 712-5, 2009-Oct.
dc.identifier1678-4685
dc.identifier10.1590/S1415-47572009005000071
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/21637442
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/198603
dc.identifier21637442
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1298836
dc.descriptionHb H Disease is caused by the loss or inactivation of three of the four functional α-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 ( α-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common α(0) deletion [-( α) (20.5) ] with a rare point mutation (c.427T > A), thus resulting in an elongated and unstable α-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.description712-5
dc.languageeng
dc.relationGenetics And Molecular Biology
dc.relationGenet. Mol. Biol.
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subjectHb H Disease
dc.subjectHb Icaria
dc.subjectAlpha-thalassemia
dc.subjectHereditary Hemoglobinopathies
dc.titleHb H Disease Resulting From The Association Of An α-thalassemia Allele [-(α)] With An Unstable α-globin Variant [hb Icaria]: First Report On The Occurrence In Brazil.
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución