Feliu-Torres A.,Servicio de Hematologa Oncologa |
Eberle S.E.,Servicio de Hematologa Oncologa |
Brags I.M.,National University of Rosario |
Sciuccati G.,Servicio de Hematologa Oncologa |
And 11 more authors.
A new sickling hemoglobin (Hb) detected in an Argentinean family from San Martn, Buenos Aires, Argentina, is hereby described. Two mutations were identified on the same β-globin gene resulting in a new variant named Hb San Martin. One mutation was found on exon 1, corresponding to Hb S [β6Glu→Val, GAG>GTG] and the second one on exon 3 at β105(G7)Leu→Pro, CTC>CCC. The replacement of leucine by proline will likely impair the structure breaking helix G and causing instability of the molecule and the clinical manifestations typical of unstable Hbs. The mutation at β105 seemed to be a de novo one in our patients, arising on a previously mutated gene, due to the fact that Hb S is the most frequent structural variant. © 2010 Informa UK Ltd. Source