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Hemoglobin. 2010;34(5):500-4. doi: 10.3109/03630269.2010.513646.

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.

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  • 1Servicio de Hematología-Oncología, Hospital Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. afeliutorres@yahoo.com

Abstract

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 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.

PMID:
20854125
[PubMed - indexed for MEDLINE]
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