Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis

Haematologica. 2005 Aug;90(8):1135-6.

Abstract

We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205C-->A in exon 10 predicts the amino acid change 402Thr-->Asn in the b-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366G-->A in exon 12 predicts the amino acid substitution 456Asp-->His in the a-helix N, at the protein surface (G6PD Figueira da Foz).

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anemia, Hemolytic / blood
  • Anemia, Hemolytic / genetics*
  • Exons
  • Glucosephosphate Dehydrogenase / chemistry
  • Glucosephosphate Dehydrogenase / genetics*
  • Humans
  • Models, Molecular
  • Mutation, Missense*
  • Polymorphism, Single Nucleotide
  • Protein Conformation

Substances

  • Glucosephosphate Dehydrogenase