Hb H Disease Resulting From The Association Of An α0- Thalassemia Allele [-(α)20.5] With An Unstable α-globin Variant [hb Icaria]: First Report On The Occurrence In Brazil

dc.creatorKimura E.M.
dc.creatorOliveira D.M.
dc.creatorFertrin K.
dc.creatorPinheiro V.R.
dc.creatorJorge S.E.D.C.
dc.creatorCosta F.F.
dc.creatorSonati M.D.F.
dc.date2009
dc.date2015-06-26T13:37:55Z
dc.date2015-11-26T15:39:13Z
dc.date2015-06-26T13:37:55Z
dc.date2015-11-26T15:39:13Z
dc.date.accessioned2018-03-28T22:47:44Z
dc.date.available2018-03-28T22:47:44Z
dc.identifier
dc.identifierGenetics And Molecular Biology. , v. 32, n. 4, p. 712 - 715, 2009.
dc.identifier14154757
dc.identifier10.1590/S1415-47572009005000071
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-73449092510&partnerID=40&md5=54427598ab36990686c69672946163ce
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/92900
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/92900
dc.identifier2-s2.0-73449092510
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1264091
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 α0 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. Copyright © 2009, Sociedade Brasileira de Genética.
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dc.description712
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dc.languageen
dc.publisher
dc.relationGenetics and Molecular Biology
dc.rightsaberto
dc.sourceScopus
dc.titleHb H Disease Resulting From The Association Of An α0- Thalassemia Allele [-(α)20.5] With An Unstable α-globin Variant [hb Icaria]: First Report On The Occurrence In Brazil
dc.typeArtículos de revistas


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