Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy

Hemoglobin. 2006;30(3):401-3. doi: 10.1080/03630260600755930.

Abstract

Hb Southampton (also known as Hb Casper) is characterized by the substitution of a leucine residue for a proline at codon beta106 (CTG-->CCG). This mutation breaks the G helix and severely distorts the tertiary structure of the molecule, producing an unstable hemoglobin (Hb) and severe hemolysis. We identified this hemoglobinopathy in a young patient with severe hemolytic anemia and hepatosplenomegaly.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic, Congenital / genetics*
  • Blood Protein Electrophoresis / methods
  • Child, Preschool
  • Erythrocyte Indices
  • Facies
  • Globins / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Point Mutation / genetics*
  • Sequence Analysis, DNA

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Southampton
  • Globins