Human transferrin G277S mutation: a risk factor for iron deficiency anaemia

Br J Haematol. 2001 Nov;115(2):329-33. doi: 10.1046/j.1365-2141.2001.03096.x.


Numerous polymorphisms of the transferrin gene result in a range of electrophoretic variants. We show that one of these mutations has a functional consequence. A G-->A mutation at cDNA nucleotide 829 (G277S) was associated with a reduction in total iron binding capacity (TIBC). In menstruating white women, the G277S genotype was a risk factor for iron deficiency anaemia: iron deficiency anaemia was present in 27% of homozygous G277S/G277S women, 10% of G277G/G277S heterozygous women and 5% of homozygous wild-type G277G/G277G women.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Anemia, Iron-Deficiency / blood
  • Anemia, Iron-Deficiency / genetics*
  • Animals
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Iron / blood
  • Male
  • Middle Aged
  • Point Mutation*
  • Polymorphism, Genetic
  • Risk Factors
  • Species Specificity
  • Transferrin / chemistry
  • Transferrin / genetics*


  • Transferrin
  • Iron