Artículos de revistas
Hb Florida: A Novel Elongated C-terminal β-globin Variant Causing Dominant β-thalassemia Phenotype
Registro en:
American Journal Of Hematology. , v. 81, n. 5, p. 358 - 360, 2006.
3618609
10.1002/ajh.20561
2-s2.0-33646469112
Autor
Weinstein B.I.
Erramouspe B.
Albuquerque D.M.
Oliveira D.M.
Kimura E.M.
Costa F.F.
Sonati M.F.
Institución
Resumen
We 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. 81 5 358 360 Alter, 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 Dacie, J.V., Lewis, S.M., (1995) Practical Haematology, 8th Ed., , New York: Churchill Livingstone 609 p Miranda, 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 Dodé, 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 Weatherall, D.J., Clegg, J.B., (2001) The Thalassaemia Syndromes, 4th Ed., , Oxford: Blackwell Science 846 p Steinberg, M.H., Forget, B.G., Higgs, D.R., Nagel, R.L., (2001) Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, , Cambridge: Cambridge University Press 1268 p http://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 Weatherall, 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 Thein, S.L., Is it a dominantly inherited β-thalassaemia or just a β-chain variant that is highly unstable? 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