dc.creatorBezerra M.A.C.
dc.creatorAlbuquerque D.M.
dc.creatorSantos M.N.N.
dc.creatorKimura E.M.
dc.creatorJorge S.E.D.C.
dc.creatorOliveira D.M.
dc.creatorDomingues B.L.T.B.
dc.creatorPeres J.C.
dc.creatorAraujo A.S.
dc.creatorCosta F.F.
dc.creatorSonati M.F.
dc.date2009
dc.date2015-06-26T13:37:02Z
dc.date2015-11-26T15:37:57Z
dc.date2015-06-26T13:37:02Z
dc.date2015-11-26T15:37:57Z
dc.date.accessioned2018-03-28T22:46:24Z
dc.date.available2018-03-28T22:46:24Z
dc.identifier
dc.identifierEuropean Journal Of Haematology. , v. 83, n. 4, p. 378 - 382, 2009.
dc.identifier9024441
dc.identifier10.1111/j.1600-0609.2009.01296.x
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-70349133018&partnerID=40&md5=fef9b4f8d0d47eb1903864c1610fe127
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/92670
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/92670
dc.identifier2-s2.0-70349133018
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1263775
dc.descriptionWe describe here two new unstable β-globin variants, Hb Caruaru and Hb Olinda, found in northeastern Brazil, both associated with chronic haemolytic anaemia. Haemoglobin Caruaru is caused by a single base substitution at codon 122 (TTC→TCC), possibly originating from the germ line cells of the patient's grandmother. Haemoglobin Olinda is also a de novo mutation, caused by a 12 bp deletion leading to the removal of the 22nd to the 25th residues of the normal β-globin chain. © 2009 John Wiley & Sons A/S.
dc.description83
dc.description4
dc.description378
dc.description382
dc.descriptionAkiyama, M., Murayama, S., Yokoi, K., Hemoglobin Hammersmith [beta 42(CD1) Phe - > Ser] causing severe hemolytic anemia in a Japanese girl (2006) Pediatr Blood Cancer, 47, pp. 839-841
dc.descriptionWilliamson, D., The unstable haemoglobins (1993) Blood Rev, 7, pp. 146-163
dc.descriptionDacie, J.V., Lewis, S.M., (1995) Practical Haematology, 8th Edn., , New York. Churchill Livingstone
dc.descriptionAntonini, E., Brunini, M., (1971) Hemoglobin and Myoglobin in Their Reaction with Ligands., , Amsterdam. North-Holland Publishing Company
dc.descriptionRossi-Fanelli, A., Antonini, E., Studies on the oxygen and carbon monoxide equilibria of human myoglobin (1958) Arch Biochem Biophys, 77, pp. 478-492
dc.descriptionMiranda, S.R.P., Fonseca, S.F., Figueiredo, M.S., Hb Köln [a2b298(FG5) Val - >met] identified by DNA analysis in a Brazilian family (1997) Braz J Genet, 20, pp. 745-748
dc.descriptionBowden, D.K., Vickers, M.A., Higgs, D.R., A PCR-based strategy to detect the common severe determinants of alpha thalassaemia (1992) Br J Haematol, 81, pp. 104-108
dc.descriptionChong, S.S., Boehm, C.D., Higgs, D.R., Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia (2000) Blood, 95, pp. 360-362
dc.descriptionDodé, C., Krishnamoorthy, R., Lamb, J., Rochette, J., Rapid analysis of -alpha 3.7 thalassaemia and alpha alpha alpha anti 3.7 triplication by enzymatic amplification analysis (1993) Br J Haematol, 83, pp. 105-111
dc.descriptionKattamis, A.C., Camaschella, C., Sivera, P., Human alpha-thalassemia syndromes: Detection of molecular defects (1996) Am J Hematol, 53, pp. 81-91
dc.descriptionSutton, M., Bouhassira, E.E., Nagel, R.L., Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes (1989) Am J Hematol, 32, pp. 66-9
dc.descriptionOrkin, S.H., Kazazian, Jr.H.H., Antonarakis, S.E., Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster (1982) Nature, 296, pp. 627-631
dc.descriptionNagel, R.L., Disorders of hemoglobin function and stability (2001) Disorders of Hemoglobin- Genetics, Pathophysiology and Clinical Management, 1st Edn., pp. 1155-1194. , In. Steinberg, M.H. Forget, B.G. Higgs, D.R. Nagel, R.L. eds. Cambridge, UK. Cambridge University Press
dc.descriptionWajcman, H., Drupt, F., Henthorn, J.S., Two new variants with the same substitution at position beta122: Hb Bushey [beta122(GH5)Phe - >leu] and Hb Casablanca [beta65(E9)lys - >met
dc.descriptionBeta122(GH5)Phe - >leu] (2000) Hemoglobin, 24, pp. 125-132
dc.descriptionWajcman, H., Girodon, E., Prome, D., Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity (1995) Hum Genet, 96, pp. 711-716
dc.descriptionhttp://globin.bx.psu.edu/hbvar/menu.html, Globin Gene Server. Web Site. )Ozcelik, H., Basak, A.N., Tuzmen, S., A novel deletion in a Turkish beta-thalassemia patient detected by DGGE and direct sequencing: FSC 22-24 (-7 bp) (1993) Hemoglobin, 17, pp. 387-391
dc.descriptionRopero, P., Gonzalez, F.A., Villas, J.M., The novo 4 BP deletion in the codons 20/21 (-TGGA) at the first exon of the beta-globin gene causing a beta0-thalassemia in a Spanish male (2008) Ann Hematol, 87, pp. 63-5
dc.languageen
dc.publisher
dc.relationEuropean Journal of Haematology
dc.rightsfechado
dc.sourceScopus
dc.titleTwo New Unstable Haemoglobins Leading To Chronic Haemolytic Anaemia: Hb Caruaru [β122 (gh5) Phe→ser], A Probable Case Of Germ Line Mutation, And Hb Olinda [β22 (b4) - 25 (b7)], A Deletion Of A 12 Base-pair Sequence
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución