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Article

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

British journal of haematology - 1 Nov 2001

Lee P L, Halloran C, Trevino R, Felitti V, Beutler E

Abstract excerpt

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%...

Topics

Adult
Amino Acid Sequence
Anemia, Iron-Deficiency
Animals
Female
Genetic Predisposition to Disease
Genotype
Humans
Iron
Male
Middle Aged
Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

Risk Factors

Species Specificity

Transferrin

Source

Identifiers

PMID: 11703331
DOI: 10.1046/j.1365-2141.2001.03096.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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