| dc.creator | Pereira J.A.L. | |
| dc.creator | Lopez P. | |
| dc.creator | Costa F.F. | |
| dc.creator | Sans M. | |
| dc.creator | Sonati M.D.F. | |
| dc.date | 2013 | |
| dc.date | 2015-06-25T19:19:12Z | |
| dc.date | 2015-11-26T15:17:20Z | |
| dc.date | 2015-06-25T19:19:12Z | |
| dc.date | 2015-11-26T15:17:20Z | |
| dc.date.accessioned | 2018-03-28T22:27:02Z | |
| dc.date.available | 2018-03-28T22:27:02Z | |
| dc.identifier | | |
| dc.identifier | Revista Brasileira De Hematologia E Hemoterapia. , v. 35, n. 2, p. 146 - 147, 2013. | |
| dc.identifier | 15168484 | |
| dc.identifier | 10.5581/1516-8484.20130037 | |
| dc.identifier | http://www.scopus.com/inward/record.url?eid=2-s2.0-84879033829&partnerID=40&md5=63d805cea6f182bd0d7dd68c3ccd43e6 | |
| dc.identifier | http://www.repositorio.unicamp.br/handle/REPOSIP/89912 | |
| dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/89912 | |
| dc.identifier | 2-s2.0-84879033829 | |
| dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1259424 | |
| dc.description | Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her childhood. According to our knowledge this is the first time that this variant has been found in the Uruguayan population. | |
| dc.description | 35 | |
| dc.description | 2 | |
| dc.description | 146 | |
| dc.description | 147 | |
| dc.description | Perutz, M.F., Stereochemistry of cooperative effects in haemoglobin (1970) Nature, 228 (5273), pp. 726-739 | |
| dc.description | Hyde, R.D., Hall, M.D., Wiltshire, B.G., Lehmann, H., Haemoglobin Southampton, β106(G8)Leu→Pro: An unstable variant producing severe haemolysis (1972) Lancet, 2 (7788), pp. 1170-1172 | |
| dc.description | Koler, R.D., Jones, R.T., Bigley, R.H., Litt, M., Lovrien, E., Brooks, R., Lahey, M.E., Hemoglobin. Casper: β106 (G8) Leu→Pro | |
| dc.description | a contemporary mutation (1973) Am J Med, 55 (3), pp. 549-558 | |
| dc.description | Didkowskii, N.A., Idel'son, L.I., Filippova, A.V., Lemann, G., A new case of the unstable Hemoglobin Southampton-Casper (β106) (G8) leucine→proline (1976) Probl Gematol Pereliv Krovi, 21 (6), pp. 48-50. , Russian | |
| dc.description | Wajcman, H., Gacon, G., Labie, D., Koler, R.D., Jones, R.T., Isolation and functional characterization of hemoglobin Casper: β106 (G8) Leu replaced by Pro (1975) Biochemistry, 14 (22), pp. 5017-5020 | |
| dc.description | Heintz, N.H., Howard, P.L., Hemoglobin Southampton (Casper): Characterization of the base mutation (1989) Am J Hematol, 30 (1), pp. 1-3 | |
| dc.description | Eandi, S.E., Noguera, N.I., Sciuccati, G., Bonduel, M., Díaz, L., Staciuk, R., Hb Southampton [b106(G8)Leu→Pro, CTG→CCG] in an Argentinean boy (2006) Hemoglobin, 30 (3), pp. 401-403 | |
| dc.description | Avalos, V., Eandi, S., Pepe, C., Sciuccatia, G., García, N., Cervioa, C., [Severe hemolytic anemia due to hemoglobin Southampton]. Case report (2012) Arch Argent Pediatr, 110 (5), pp. e91-e94. , Spanish | |
| dc.description | Tan, A.S., Quah, T., Low, P., Chong, S.S., A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia (2001) Blood, 98 (1), pp. 250-251 | |
| dc.description | Hall, G.W., Thein, S., Newland, A., Chisholm, M., Traeger-Synodinos, J., Kanavakis, E., A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia (1993) Br J Haematol, 85 (3), pp. 546-552 | |
| dc.description | Miranda, S.R., Fonseca, S., Figuereido, M., Yamamoto, M., Hb Köln [a2b298(FG5) val-met] identified by DNA analysis in a Brazilian family (1997) Braz J Genet, 20 (4) | |
| dc.description | Williamson, D., The unstable haemoglobins (1993) Blood Rev, 7 (3), pp. 146-163 | |
| dc.description | Dacie, J.V., Lewis, S.M., (1995) Practical Haematology, , 8th ed. New York: Churchill Livingstone | |
| dc.language | en | |
| dc.publisher | | |
| dc.relation | Revista Brasileira de Hematologia e Hemoterapia | |
| dc.rights | aberto | |
| dc.source | Scopus | |
| dc.title | Hb Southampton [b106(g8)leu→pro, Ctg→ccg] In A Uruguayan Woman | |
| dc.type | Artículos de revistas | |
