title: Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.
abstract: 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.
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA. plee@scripps.edu
authors.forename: P L
authors.initials: PL
authors.lastname: Lee
authors.forename: C
authors.initials: C
authors.lastname: Halloran
authors.forename: R
authors.initials: R
authors.lastname: Trevino
authors.forename: V
authors.initials: V
authors.lastname: Felitti
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D018798:Anemia, Iron-Deficiency / Q000097:blood / Q000235:genetics*; D000818:Animals; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012307:Risk Factors; D013045:Species Specificity; D014168:Transferrin / Q000737:chemistry / Q000235:genetics*
chemical_list: D014168:Transferrin; D007501:Iron