Article
Hb S-San Martin: a new sickling hemoglobin with two amino acid substitutions [β6(A3)Glu→Val;β105(G7)Leu→Pro] in an Argentinean family.
Hemoglobin - 1 Jan 2010
Feliu-Torres Aurora, Eberle Silvia Eandi, Bragós Irma M, Sciuccati Gabriela, Ojeda Mara J, Calvo Karina L, Voss María E, Pratti Arianna F, Milani Angela C, Bonduel Mariana, Díaz Lilian, Noguera Nélida I
Abstract excerpt
A new sickling hemoglobin (Hb) detected in an Argentinean family from San Martín, 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...
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