Hb S-San Martin: a new sickling hemoglobin with two amino acid substitutions [ß6(A3)GluâVal;ß105(G7)LeuâPro] in an Argentinean family.
Hemoglobin
; 34(5): 500-4, 2010.
Article
em En
| MEDLINE
| ID: mdl-20854125
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 ß-globin gene resulting in a new variant named Hb San Martin. One mutation was found on exon 1, corresponding to Hb S [ß6GluâVal, GAG>GTG] and the second one on exon 3 at ß105(G7)LeuâPro, 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 ß105 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.
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Base de dados:
MEDLINE
Assunto principal:
Hemoglobina Falciforme
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Hemoglobinas Anormais
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Substituição de Aminoácidos
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Globinas beta
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Mutação
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article