Artículos de revistas
Two 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
Registro en:
European Journal Of Haematology. , v. 83, n. 4, p. 378 - 382, 2009.
9024441
10.1111/j.1600-0609.2009.01296.x
2-s2.0-70349133018
Autor
Bezerra M.A.C.
Albuquerque D.M.
Santos M.N.N.
Kimura E.M.
Jorge S.E.D.C.
Oliveira D.M.
Domingues B.L.T.B.
Peres J.C.
Araujo A.S.
Costa F.F.
Sonati M.F.
Institución
Resumen
We 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. 83 4 378 382 Akiyama, 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 Williamson, D., The unstable haemoglobins (1993) Blood Rev, 7, pp. 146-163 Dacie, J.V., Lewis, S.M., (1995) Practical Haematology, 8th Edn., , New York. Churchill Livingstone Antonini, E., Brunini, M., (1971) Hemoglobin and Myoglobin in Their Reaction with Ligands., , Amsterdam. North-Holland Publishing Company Rossi-Fanelli, A., Antonini, E., Studies on the oxygen and carbon monoxide equilibria of human myoglobin (1958) Arch Biochem Biophys, 77, pp. 478-492 Miranda, 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 Bowden, 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 Chong, 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 Dodé, 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 Kattamis, A.C., Camaschella, C., Sivera, P., Human alpha-thalassemia syndromes: Detection of molecular defects (1996) Am J Hematol, 53, pp. 81-91 Sutton, 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 Orkin, 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 Nagel, 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 Wajcman, 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 Beta122(GH5)Phe - >leu] (2000) Hemoglobin, 24, pp. 125-132 Wajcman, 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 http://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 Ropero, 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