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Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.

ABSTRACT: BACKGROUND:Iron deficiency anaemia is a worldwide health problem in which environmental, physiologic and genetic factors play important roles. The associations between iron status biomarkers and single nucleotide polymorphisms (SNPs) known to be related to iron metabolism were studied in menstruating women. METHODS:A group of 270 Caucasian menstruating women, a population group at risk of iron deficiency anaemia, participated in the study. Haematological and biochemical parameters were analysed and 10 selected SNPs were genotyped by minisequencing assay. The associations between genetic and biochemical data were analysed by Bayesian Model Averaging (BMA) test and decision trees. Dietary intake of a representative subgroup of these volunteers (n = 141) was assessed, and the relationship between nutrients and iron biomarkers was also determined by linear regression. RESULTS:Four variants, two in the transferrin gene (rs3811647, rs1799852) and two in the HFE gene (C282Y, H63D), explain 35% of the genetic variation or heritability of serum transferrin in menstruating women. The minor allele of rs3811647 was associated with higher serum transferrin levels and lower transferrin saturation, while the minor alleles of rs1799852 and the C282Y and H63D mutations of HFE were associated with lower serum transferrin levels. No association between nutrient intake and iron biomarkers was found. CONCLUSIONS:In contrast to dietary intake, these four SNPs are strongly associated with serum transferrin. Carriers of the minor allele of rs3811647 present a reduction in iron transport to tissues, which might indicate higher iron deficiency anaemia risk, although the simultaneous presence of the minor allele of rs1799852 and HFE mutations appear to have compensatory effects. Therefore, it is suggested that these genetic variants might potentially be used as markers of iron deficiency anaemia risk.

SUBMITTER: Blanco-Rojo R

PROVIDER: S-EPMC3195693 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature

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Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.

Blanco-Rojo Ruth R Baeza-Richer Carlos C López-Parra Ana M AM Pérez-Granados Ana M AM Brichs Anna A Bertoncini Stefania S Buil Alfonso A Arroyo-Pardo Eduardo E Soria Jose M JM Vaquero M Pilar MP

Nutrition & metabolism 20111006

<h4>Background</h4>Iron deficiency anaemia is a worldwide health problem in which environmental, physiologic and genetic factors play important roles. The associations between iron status biomarkers and single nucleotide polymorphisms (SNPs) known to be related to iron metabolism were studied in menstruating women.<h4>Methods</h4>A group of 270 Caucasian menstruating women, a population group at risk of iron deficiency anaemia, participated in the study. Haematological and biochemical parameters ...[more]

PMID: 21978626

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Project description:Anaemia in pregnancy is a major health problem and an important cause of adverse foetomaternal outcomes in developing countries. Iron deficiency is the cause of the overwhelming majority of the cases of anaemia in pregnancy. Iron deficiency anaemia (IDA) has been linked with adverse foetal and maternal outcomes. This study investigated the prevalence of IDA and evaluated its effects on foetomaternal outcomes among parturients in Lagos, Nigeria. This was a cross-sectional study that enrolled 220 women aged 15-49 years with singleton gestation at term, between May 1, 2016, and March 31, 2017. Participants were selected by systematic sampling and baseline data were collected through interviews. Venous blood samples were obtained to measure haemoglobin and serum ferritin concentrations, and the associations between IDA (defined as anaemia and iron deficiency) and pregnancy outcomes were examined. A P-value <0.05 was considered as statistically significant. The prevalence of IDA was 12.3%. Routine antenatal iron supplementation (adjusted odds ratio 0.18, 95% confidence interval 0.07-0.46; P = 0.001) and interpregnancy interval of at least 2 years (adjusted odds ratio 0.20, 95% confidence interval 0.05-0.97; P = 0.021) have significant association with IDA. Iron deficiency anaemia was not significantly associated with adverse perinatal outcomes but there were significant associations with increased risk of blood transfusion (P = 0.001) and maternal infectious morbidities such as puerperal pyrexia (P = 0.041) and wound infection (P = 0.020). IDA is still a fairly common condition among parturients in Lagos and it's mostly associated with maternal peripartum morbidities. Adequate pregnancy spacing through the use of effective contraception and routine antenatal iron supplementations in pregnancy is a recommended preventive measure against IDA and its adverse sequelae. Future studies should adopt the use of transferrin saturation (TSAT) in compliment with serum ferritin assay as a more sensitive marker of iron deficiency.

Project description:BackgroundNumerous iron preparations are available for the treatment of iron deficiency anaemia in pregnancy. We aimed to provide a summary of the effectiveness and safety of iron preparations used in this setting.MethodsWe did a systematic review and network meta-analysis of randomised trials. We searched MEDLINE, Embase, Cochrane Central Register of Controlled Trials, trial registers, and grey literature for trials published in any language from Jan 1, 2011, to Feb 28, 2021. We included trials including pregnant women with iron deficiency anaemia and evaluating iron preparations, irrespective of administration route, with at least 60 mg of elemental iron, in comparison with another iron or non-iron preparation. Three authors independently selected studies, extracted data, and did a risk of bias assessment using the Cochrane tool (version 1.0). The primary outcome was the effectiveness of iron preparations, evaluated by changes in haemoglobin concentration at 4 weeks from baseline. The secondary outcomes were change in serum ferritin concentration at 4 weeks from baseline and treatment-related severe and non-severe adverse events. We did random-effects pairwise and network meta-analyses. Side-effects were reported descriptively for each trial. This study is registered with PROSPERO, CRD42018100822.FindingsAmong 3037 records screened, 128 full-text articles were further assessed for eligibility. Of the 53 eligible trials (reporting on 9145 women), 30 (15 interventions; 3243 women) contributed data to the network meta-analysis for haemoglobin and 15 (nine interventions; 1396 women) for serum ferritin. The risk of bias varied across the trials contributing to network meta-analysis, with 22 of 30 trials in the network meta-analysis for haemoglobin judged to have a high or medium global risk of bias. Compared with oral ferrous sulfate, intravenous iron sucrose improved both haemoglobin (mean difference 7·17 g/L, 95% CI 2·62-11·73; seven trials) and serum ferritin (mean difference 49·66 μg/L, 13·63-85·69; four trials), and intravenous ferric carboxymaltose improved haemoglobin (mean difference 8·52 g/L, 0·51-16·53; one trial). The evidence for other interventions compared with ferrous sulfate was insufficient. The most common side-effects with oral iron preparations were gastrointestinal effects (nausea, vomiting, and altered bowel movements). Side-effects were less common with parenteral iron preparations, although these included local pain, skin irratation, and, on rare occasions, allergic reactions.InterpretationIron preparations for treatment of iron deficiency anaemia in pregnancy vary in effectiveness, with good evidence of benefit for intravenous iron sucrose and some evidence for intravenous ferric carboxymaltose. Clinicians and policy makers should consider the effectiveness of individual preparations before administration, to ensure effective treatment.FundingNone.

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Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.

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Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.

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