Hb Florida: A Novel Elongated C-terminal β-globin Variant Causing Dominant β-thalassemia Phenotype

dc.creatorWeinstein B.I.
dc.creatorErramouspe B.
dc.creatorAlbuquerque D.M.
dc.creatorOliveira D.M.
dc.creatorKimura E.M.
dc.creatorCosta F.F.
dc.creatorSonati M.F.
dc.date2006
dc.date2015-06-30T18:12:59Z
dc.date2015-11-26T14:27:32Z
dc.date2015-06-30T18:12:59Z
dc.date2015-11-26T14:27:32Z
dc.date.accessioned2018-03-28T21:30:42Z
dc.date.available2018-03-28T21:30:42Z
dc.identifier
dc.identifierAmerican Journal Of Hematology. , v. 81, n. 5, p. 358 - 360, 2006.
dc.identifier3618609
dc.identifier10.1002/ajh.20561
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-33646469112&partnerID=40&md5=4dae5c0cfb84dcd109706d24490b48e0
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/103532
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/103532
dc.identifier2-s2.0-33646469112
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1246369
dc.descriptionWe report here a new frameshift mutation in exon 3 of the β-globin gene, a single nucleotide deletion (-C) in between codons 140/141 (GCC/CTG→GCC/TG), found in an 8-year-old Argentinean girl with clinical picture of thalassemia intermedia. It leads to a β-chain that is elongated to 156 amino acids [(141)Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(156) Tyr-COOH]. The resulting hemoglobin, which we named Hb Florida, was not detected in peripheral blood; however, erythroid hyperplasia and dyserythropoiesis with large inclusion bodies on methyl violet staining were observed in bone marrow, suggesting that this is a hyperunstable variant producing a dominant β-thalassemia phenotype, since the other β-allele was completely normal. © 2006 Wiley-Liss, Inc.
dc.description81
dc.description5
dc.description358
dc.description360
dc.descriptionAlter, B.P., Goff, S.C., Efremov, G.D., Gravely, M.E., Huisman, T.H.J., Globin chain electrophoresis: A new approach to theGγ/ aγ ratio of globin synthesis (1980) Br J Haematol, 44, pp. 527-534
dc.descriptionDacie, J.V., Lewis, S.M., (1995) Practical Haematology, 8th Ed., , New York: Churchill Livingstone
dc.description609 p
dc.descriptionMiranda, S.R.P., Fonseca, S.F., Figueiredo, M.S., Yamamoto, M., Grotto, H.Z.W., Saad, S.T.O., Costa, F.F., Hb Köln [α2β2 98 (FG) Val→Met] identified by DNA analysis in a Brazilian family (1997) Braz J Genet, 20, pp. 745-748
dc.descriptionDodé, C., Krishnamoorthy, R., Lamb, J., Rochette, J., Rapid analysis of -α3.7 thalassaemia and αααanti3.7 triplication by enzymatic amplification analysis (1993) Br J Haematol, 82, pp. 105-111
dc.descriptionWeatherall, D.J., Clegg, J.B., (2001) The Thalassaemia Syndromes, 4th Ed., , Oxford: Blackwell Science
dc.description846 p
dc.descriptionSteinberg, M.H., Forget, B.G., Higgs, D.R., Nagel, R.L., (2001) Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, , Cambridge: Cambridge University Press
dc.description1268 p
dc.descriptionhttp://globin.cse.psu.eduThein, S.L., Hesketh, C., Taylor, P., Temperley, I.J., Hutchinson, R.M., Old, J.M., Wood, W.G., Weatherall, D.J., Molecular basis for dominantly inherited inclusion body β-thalassemia (1990) Proc Natl Acad Sci USA, 87, pp. 3924-3928
dc.descriptionWeatherall, D.J., Clegg, J.B., Knox-Macaulay, H.H.M., Bunch, C., Hopkins, C.R., Temperley, I.J., A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia (1973) Br J Haematol, 24, pp. 681-702
dc.descriptionThein, S.L., Is it a dominantly inherited β-thalassaemia or just a β-chain variant that is highly unstable? (1999) Br J Haematol, 107, pp. 12-21
dc.descriptionFaustino, P., Osorio-Almeida, L., Romao, L., Barbot, J., Fernandes, B., Justiça, B., Lavinha, J., Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide (1998) Blood, 91, pp. 685-690
dc.descriptionRistaldi, M.S., Pirastu, M., Murru, S., Casula, L., Loudianos, G., Cao, A., Sciarratta, G.V., Melesendi, C., A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype (1990) Blood, 75, pp. 1378-1379
dc.descriptionWilliamson, D., Brown, K.P., Langdown, J.V., Baglin, T.P., Mild thalassemia intermedia resulting from a new insertion/frameshift mutation in the beta-globin gene (1997) Hemoglobin, 21, pp. 485-493
dc.descriptionKazazian, H.H.J., Dowling, C.E., Hurwitz, R.L., Coleman, M., Stopeck, A., Adams, J.G.I., Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the β-globin gene (1992) Blood, 79, pp. 3014-3018
dc.descriptionBeris, P., Miescher, P.A., Diaz-Chico, J.C., Han, I.S., Kutlar, A., Hu, H., Wilson, J.B., Huisman, T.H.J., Inclusion-body β-thalassemia trait in a Dwiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended β chain carboxy-terminus due to a modification in codon β114 (1988) Blood, 72, pp. 801-805
dc.descriptionPrehu, C., Pissard, S., Al-Sheikh, M., Le Niger, C., Bachir, D., Galacteros, F., Wajcman, H., Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG→TAG (Gln→stop]) (2005) Hemoglobin, 29, pp. 229-233
dc.descriptionFucharoen, S., Kobayashi, Y., Fucharoen, G., Ohba, Y., Miyazono, K., Fukumaki, Y., Takaku, F., A single nucleotide deletion in codon 123 of the beta-globin gene causes an inclusion body beta-thalassaemia trait: A novel elongated globin chain beta Makabe (1990) Br J Haematol, 75, pp. 393-399
dc.descriptionÇürük, M.A., Molchanova, T.P., Postnikov, Y.V., Pobedimskaya, D.D., Liang, R., Baysal, E., Kolodey, S., Rumyantsev, A.G., Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients (1994) Am J Hematol, 46, pp. 329-332
dc.descriptionOhba, Y., Hattori, Y., Harano, T., Harano, K., Fukumaki, Y., Ideguchi, H., Beta-thalassemia mutations in Japanese and Koreans (1997) Hemoglobin, 21, pp. 191-200
dc.descriptionMurru, S., Loudianos, G., Deiana, M., Camaschella, C., Sciarratta, G., Agosti, V., Parodi, M.I., Pirastu, M., Molecular characterization of β-thalassemia intermédia in patients of Italian descent and identification of three novel β-thalassemia mutations (1991) Blood, 77, pp. 1342-1347
dc.descriptionIvaldi, G., David, O., Baffico, M., Leone, D., Baldi, M., Parodi, M.I., Scime-Degani, V., Ricco, G., Hb Trento: An elongated C-terminal beta chain due to a new frameshift mutation [beta144 (-A)] (2003) Hemoglobin, 27, pp. 15-25
dc.languageen
dc.publisher
dc.relationAmerican Journal of Hematology
dc.rightsfechado
dc.sourceScopus
dc.titleHb Florida: A Novel Elongated C-terminal β-globin Variant Causing Dominant β-thalassemia Phenotype
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución