Premium
Human transferrin G277S mutation: a risk factor for iron deficiency anaemia
Author(s) -
Lee Pauline L.,
Halloran Carol,
Trevino Renee,
Felitti Vincent,
Beutler Ernest
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.03096.x
Subject(s) - transferrin , mutation , iron deficiency , genotype , total iron binding capacity , serum iron , medicine , risk factor , heterozygote advantage , endocrinology , biology , genetics , gene , anemia
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.