Artículos de revistas
Three New α-globin Variants: Hb Itapira [α30(b11)glu→val (α1)], Hb Bom Jesus Da Lapa [α30(b11)glu→ala (α1)] And Hb Boa Esperança [α16(a14)lys→thr (α2)]
Registro en:
Hemoglobin. , v. 31, n. 2, p. 151 - 157, 2007.
3630269
10.1080/03630260701289425
2-s2.0-34248196518
Autor
Jorge S.E.C.
Kimura E.M.
Oliveira D.M.
Ogo S.
Albuquerque D.M.
Costa F.F.
Sonati M.D.F.
Institución
Resumen
Three novel α-globin variants were found during a screening program for hemoglobinopathies in blood donors at the UNICAMP Hematology and Hemotherapy Center, Campinas, State of São Paulo, Southeastern Brazil. They were named for the town of origin of the carrier as Hb Itapira [α30(B11) Glu→Val], Hb Bom Jesus da Lapa [α30(B11)Glu→Ala] and Hb Boa EsperanÇa [α16(A14)Lys→Thr]. Hb Itapira, like Hb Bom Jesus da Lapa, shows an electrophoretic mobility similar to that of Hb S [β6(A3)Glu→Val, GAG→GTG] at alkaline pH; it is associated with a triplicate α-globin allele (αααanti 3.7) and corresponds to only 5.5% of the total hemoglobin (Hb). Hb Boa EsperanÇa, found in two different individuals, moves faster than Hb A and exhibits an abnormal functional performance. Copyright © Informa Healthcare. 31 2 151 157 Hardison, R.C., Chui, D.H.K., Giardine, B., Riemer, C., Patrinos, G.P., Anagnou, N., Miller, W., Wajcman, H., HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server (2002) Hum Mutat, 19 (3), pp. 225-233. , http://globin.cse.psu.edu Dacie, J.V., Lewis, S.M., (1995) Practical Haematology, , 8th ed. Edinburgh: Churchill Livingstone Dodé, C., Rochette, J., Krishnamoorthy, R., Locus assignment of human α globin mutations by selective amplification and direct sequencing (1990) Br J Haematol, 76 (2), pp. 275-281 Dodé, C., Krishnamoorthy, R., Lamb, J., Rochette, J., Rapid analysis of ?α 3.7 thalassaemia and ααα anti 3.7 triplication by enzymatic amplification analysis (1993) Br J Haematol, 83 (1), pp. 105-111 Rossi-Fanelli, A., Antonini, E., Studies on the oxygen and carbon monoxide equilibria of human hemoglobin (1958) Arch Biochem Biophys, 77 (2), pp. 478-492 Chanutin, A., Curnish, R.R., Effect of organic and inorganic phosphates on the oxygen equilibrium of human erythrocytes (1967) Arch Biochem Biophys, 121 (1), pp. 96-102 Benesch, R., Benesch, R.E., The effect of organic phosphates from the human erythrocyte on the allosteric properties of hemoglobin (1967) Biochem Biophys Res Commun, 26 (2), pp. 162-167 Tan, A.S.C., Quah, T.C., Low, P.S., Chong, S.S., A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia (2001) Blood, 98 (1), pp. 250-251 Antonini, E., Brunoni, M., (1970) Hemoglobin and Myoglobin in Their Reaction with Ligands, , 1st ed. Amsterdam: North-Holland Publishing Company Vestri, R., Pieragostini, E., Yang, F., di Gregório, P., Rando, A., Masina, P., Expression of triplicated and quadruplicated α globin genes in sheep (1991) Br J Haematol, 77 (1), pp. 110-116 Vestri, R., Pieragostini, E., Ristaldi, M.S., Expression gradient in sheep αα and ααα globin gene haplotypes: MRNA levels (1994) Blood, 83 (8), pp. 2317-2322