Human transferrin G277S mutation and iron deficiency in pregnancy

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Human transferrin G277S mutation and iron deficiency in pregnancy

Transferrin (TF) is the most important iron carrying plasma protein. Minor TF mutations may cause mild disorders of iron metabolism. A polymorphism in exon 7 of TF, G fi A at nucleotide 829 (G277S) was associated with a reduction in total iron-binding capacity (TIBC) and a predisposition in menstruating women to iron deficiency anaemia (Lee et al, 2001). Iron deficiency anaemia was found to be present in 27% of homozygous G277S/G277S women, 10% of G277G/G277S heterozygous women and 5% of homozygous wild-type G277G/G277G women (Lee et al, 2001). No data are known about the significance of transferrin G277S mutation in pregnancy. As pregnancy is associated with a marked increase in dietary iron needs, we studied the possible effect of the G277S polymorphism on iron status during pregnancy. Data collected included TF sequence for G277S, measurements of serum ferritin, iron, transferrin, soluble transferrin receptors, haemoglobin and haematocrit. For TF genotyping, exon 7 was amplified as described previously (Beutler et al, 2000). Agreement with the Hardy–Weinberg equilibrium was

evaluated using chi-square test. Differences between TF genotype groups were assessed using analysis of variance (anova). Ninety-two pregnant women were followed longitudinally during pregnancy. Of these women, 14 (15%) exhibited iron deficiency anaemia, defined as a haemoglobin level