Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.
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.
Lee
P L
PL
Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA. plee@scripps.edu
Halloran
C
C
Trevino
R
R
Felitti
V
V
Beutler
E
E
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*
D014168:Transferrin; D007501:Iron