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

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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution*
  • Argentina
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Family Health
  • Hemoglobin, Sickle / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Models, Molecular
  • Mutation*
  • Protein Structure, Secondary
  • beta-Globins / chemistry
  • beta-Globins / genetics*

Substances

  • Hemoglobin, Sickle
  • Hemoglobins, Abnormal
  • beta-Globins
  • hemoglobin S-San Martin