Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.
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Lee PL, Halloran C, Trevino R, Felitti V, Beutler E
Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.
Br J Haematol. 2001 Nov;115(2):329-33.
- PubMed ID
- 11703331 [ View in PubMed]
- 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.