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Br J Haematol. 2001 Nov;115(2):329-33.

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

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Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA.


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.

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