Genetic contribution to iron status: SNPs related to iron deficiency anaemia and fine mapping of CACNA2D3 calcium channel subunit

2015 ◽  
Vol 55 (4) ◽  
pp. 273-280 ◽  
Author(s):  
Carlos Baeza-Richer ◽  
Eduardo Arroyo-Pardo ◽  
Ruth Blanco-Rojo ◽  
Laura Toxqui ◽  
Angel Remacha ◽  
...  
2007 ◽  
Vol 10 (11) ◽  
pp. 1266-1273 ◽  
Author(s):  
Min Tao ◽  
David L Pelletier ◽  
Dennis D Miller

AbstractObjectiveTo quantify the potential effect of iron defortification in the USA on iron-deficiency anaemia (IDA).MethodsMonte Carlo models were built to simulate iron nutrition in the US population. A hypothetical cohort of 15 000 persons from the general population was used in 15-year simulations to compare the prevalence of IDA with and without fortification.ResultsWith iron fortification, the prevalence of IDA was 2.4% for children aged 3–5 years, 5.4% for women aged 20–49 years, and 0.14% for men aged 20–49 years. The corresponding IDA estimates under iron defortification were 4.5%, 8.2% and 0.46%, respectively. Defortification had little effect on the distribution of iron indicators at or above the 50th percentile within each of these three groups and little effect on the distributions of iron indicators among adult men.ConclusionIron defortification is likely to increase IDA among children and women of reproductive age, but is not likely to have meaningful effects on the iron status of men or the majority of women and children.


2021 ◽  
Author(s):  
◽  
Esther Calje

<p>Background: Globally there is no consensus on haemoglobin (Hb) parameters that define maternal anaemia. Therefore it is difficult to distinguish physiological anaemia of pregnancy from anaemia associated with pathology. Low maternal iron status is associated with adverse outcomes, although the evidence is difficult to interpret. Non-anaemic iron deficiency requires prevention and treatment, before end stage iron deficiency anaemia. Increases in serum ferritin (SF) secondary to inflammation, gives misleading results of iron stores if not tested with C-reactive protein (CRP). Given the complexities, how do Lead Maternity Carer (LMC) midwives in New Zealand manage anaemia and iron deficiency, without a clinical guideline?  Methods: In this descriptive study, quantitative data was retrospectively collected from September-December 2013, from LMC midwives (n=21) and women (n=189), in one New Zealand area. Main outcomes assessed were women’s iron status. Anaemia was defined as Hb <110g/L in the first trimester, <105g/L in subsequent trimesters, and <100g/L postnatally. Iron deficiency was defined as SF <20 μg/L, if CRP<5mg/L. A secondary analysis of iron status and body mass index (BMI) was undertaken.  Results: Of the 186 women who had Hb testing at booking, 46% did not have ferritin tested concurrently. Of the 385 ferritin tests undertaken, 86% were not tested with CRP. Despite midwives prescribing iron for 48.7%, and recommending iron for 16.9% of second trimester women, 47.1% had low iron status before birth. Only 22.8% had Hb testing postpartum, including 65.1% (of 38) with blood loss >500mls. Results of a secondary analysis showed a significant difference (p=.05) between third trimester ferritin levels in women with BMI ≥ 25 (Md SF 14 μg/L) and BMI < 25 (Md SF 18 μg/L).  Conclusions: Inconsistent testing of ferritin made it difficult to assess maternal iron status, especially without concurrent testing of CRP. Midwives may not understand and recognise the progression from iron sufficiency to end-stage iron deficiency anaemia. Even without further research this small study may indicate the need for improved education for midwives, and a clinical guideline. More complex studies on the prevalence in New Zealand, BMI and iron status, and maternal outcomes especially in the postpartum period, are warranted.</p>


2005 ◽  
Vol 8 (5) ◽  
pp. 451-460
Author(s):  
Fiona Barr ◽  
Loretta Brabin ◽  
Shola Agbaje ◽  
Feikumo Buseri ◽  
John Ikimalo ◽  
...  

AbstractObjectiveMenstrual disorders are common in young women, and heavy menstrual blood losses (MBL) are an important cause of anaemia. Menstrual morbidity normally goes untreated in developing countries where cultural barriers also serve to make the problems. We investigated the prevelance of menstrual morbidity, and measured MBL and its relationship to iron deficiency in a rural adolescent population. The rationale was to assess whether or not reducing heavy MBL could be part of a strategy to reduce iron deficiency anaemia.SettingRural village in south-east Nigeria.DesignCross-sectional survey.SubjectsThe studdy included all non-pregnant, unmarried nulliparous girls (< 20 years) who had menstruated, and who lived in K'Dere village.MethodsA field worker allocated to each girl completed a questionnaire, and supervised recovery and collection of soiled pads and ensured blood sampling. MBL was measured using the standard alkaline haematin method. Haemoglobin (HB), serum iron, transferin saturation and protoporphyrin levels (ZPP) were also measured.Results307 girls completed MBL measurements; 11.9% refused to participate. 12.1% had menorrhagia (> 80 ml);. median MBL was 33.1 ml. Menorrhagia was more frequent in girls who had menstruated for > 2 years (p = 0.048), and had longer duration of meneses (p < 0.001). Iron status as measured by haematocrit, serum iron, transferrin saturation and ZPP values was inversely related to MBL. Neither height nor body mass index for age was associated with current iron status.ConclusionsThe level of menorrhagia detected (12%) may be an ‘expected’ level for a condition which often has no underlying pathology. Heavy MBL is one of the most important factors contributing to iron deficiency anaemia. Measures are needed to alleviate menstrual disorders and improve iron status. Oral contraceptives can be part of a strategy to reduce anaemia, particularly for adolescents at high risk of unwanted pregnancies.


2008 ◽  
Vol 100 (2) ◽  
pp. 430-437 ◽  
Author(s):  
P. S. Hogenkamp ◽  
J. C. Jerling ◽  
T. Hoekstra ◽  
A. Melse-Boonstra ◽  
U. E. MacIntyre

The association between black tea consumption and iron status was investigated in a sample of African adults participating in the cross-sectional THUSA (Transition and Health during Urbanization of South Africans) study in the North West Province, South Africa. Data were analysed from 1605 apparently healthy adults aged 15–65 years by demographic and FFQ, anthropometric measurements and biochemical analyses. The main outcome measures were Hb and serum ferritin concentrations. No associations were seen between black tea consumption and concentrations of serum ferritin (menP = 0·059; womenP = 0·49) or Hb (menP = 0·33; womenP = 0·49). Logistic regression showed that tea consumption did not significantly increase risk for iron deficiency (men: OR 1·36; 95 % CI 0·99, 1·87; women: OR 0·98; 95 % CI 0·84, 1·13) nor for iron deficiency anaemia (men: OR 1·28; 95 % CI 0·84, 1·96; women: OR 0·93; 95 % CI 0·78, 1·11). Prevalence of iron deficiency and iron deficiency anaemia was especially high in women: 21·6 and 14·6 %, respectively. However, the likelihood of iron deficiency and iron deficiency anaemia was not significantly explained by tea consumption in sub-populations which were assumed to be at risk for iron deficiency. Regression of serum ferritin levels on tea consumption in women ≤ 40 years, adults with a daily iron intake ≤ 5·80 mg and adults with ferritin levels ≤ 26·60 μg/l, respectively, showedPvalues in the range of 0·28–0·88. Our findings demonstrate that iron deficiency and iron deficiency anaemia is not significantly explained by black tea consumption in a black adult population in South Africa. Tea intake was also not shown to be related to iron status in several sub-populations at risk for iron deficiency.


Nutrients ◽  
2013 ◽  
Vol 6 (1) ◽  
pp. 190-206 ◽  
Author(s):  
Hesham Al-Mekhlafi ◽  
Ebtesam Al-Zabedi ◽  
Mohamed Al-Maktari ◽  
Wahib Atroosh ◽  
Ahmed Al-Delaimy ◽  
...  

2020 ◽  
Vol 5 ◽  
pp. 40
Author(s):  
Kelvin M. Abuga ◽  
Kirk A. Rockett ◽  
John Muthii Muriuki ◽  
Oliver Koch ◽  
Manfred Nairz ◽  
...  

Background: Anaemia is a major public health concern especially in African children living in malaria-endemic regions. Interferon-gamma (IFN-γ) is elevated during malaria infection and is thought to influence erythropoiesis and iron status. Genetic variants in the IFN-γ gene (IFNG) are associated with increased IFN-γ production. We investigated putative functional single nucleotide polymorphisms (SNPs) and haplotypes of IFNG in relation to nutritional iron status and anaemia in Gambian children over a malaria season. Methods: We used previously available data from Gambian family trios to determine informative SNPs and then used the Agena Bioscience MassArray platform to type five SNPs from the IFNG gene in a cohort of 780 Gambian children aged 2-6 years. We also measured haemoglobin and biomarkers of iron status and inflammation at the start and end of a malaria season. Results: We identified five IFNG haplotype-tagging SNPs ( IFNG-1616 [rs2069705], IFNG+874 [rs2430561], IFNG+2200 [rs1861493], IFNG+3234 [rs2069718] and IFNG+5612 [rs2069728]). The IFNG+2200C [rs1861493] allele was associated with reduced haemoglobin concentrations (adjusted β -0.44 [95% CI -0.75, -0.12]; Bonferroni adjusted P = 0.03) and a trend towards iron deficiency compared to wild-type at the end of the malaria season in multivariable models adjusted for potential confounders. A haplotype uniquely identified by IFNG+2200C was similarly associated with reduced haemoglobin levels and trends towards iron deficiency, anaemia and iron deficiency anaemia at the end of the malaria season in models adjusted for age, sex, village, inflammation and malaria parasitaemia. Conclusion: We found limited statistical evidence linking IFNG polymorphisms with a risk of developing iron deficiency and anaemia in Gambian children. More definitive studies are needed to investigate the effects of genetically influenced IFN-γ levels on the risk of iron deficiency and anaemia in children living in malaria-endemic areas.


2020 ◽  
Vol 5 ◽  
pp. 40
Author(s):  
Kelvin M. Abuga ◽  
Kirk A. Rockett ◽  
John Muthii Muriuki ◽  
Oliver Koch ◽  
Manfred Nairz ◽  
...  

Background: Anaemia is a major public health concern especially in African children living in malaria-endemic regions. Interferon-gamma (IFN-γ) is elevated during malaria infection and is thought to influence erythropoiesis and iron status. Genetic variants in the IFN-γ gene (IFNG) are associated with increased IFN-γ production. We investigated putative functional single nucleotide polymorphisms (SNPs) and haplotypes of IFNG in relation to nutritional iron status and anaemia in Gambian children over a malaria season. Methods: We used previously available data from Gambian family trios to determine informative SNPs and then used the Agena Bioscience MassArray platform to type five SNPs from the IFNG gene in a cohort of 780 Gambian children. We also measured haemoglobin and biomarkers of iron status and inflammation at the start and end of a malaria season. Results: We identified five IFNG haplotype-tagging SNPs (IFNG-1616 [rs2069705], IFNG+874 [rs2430561], IFNG+2200 [rs1861493], IFNG+3234 [rs2069718] and IFNG+5612 [rs2069728]). The IFNG+2200C [rs1861493] allele was associated with reduced haemoglobin concentrations (adjusted β -0.44 [95% CI -0.75, -0.12]; Bonferroni adjusted P = 0.03) and a trend towards iron deficiency compared to wild-type at the end of the malaria season in multivariable models adjusted for potential confounders. A haplotype uniquely identified by IFNG+2200C was similarly associated with reduced haemoglobin levels and trends towards iron deficiency, anaemia and iron deficiency anaemia at the end of the malaria season in models adjusted for age, sex, village, inflammation and malaria parasitaemia. Conclusion: We found limited statistical evidence linking IFNG polymorphisms with a risk of developing iron deficiency and anaemia in Gambian children. More definitive studies are needed to investigate the effects of genetically influenced IFN-γ levels on the risk of iron deficiency and anaemia in children living in malaria-endemic areas.


2002 ◽  
Vol 54 (3) ◽  
pp. 137-144 ◽  
Author(s):  
S.N. Massawe ◽  
G. Ronquist ◽  
L. Nyström ◽  
G. Lindmark

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
J R Tan ◽  
N Bird ◽  
R Rao

Abstract Introduction NICE guidelines recommend intravenous iron for patients with iron deficiency anaemia (IDA) before major elective surgery to reduce blood transfusion rate. The aim of this audit was to assess pre-operative screening for anaemia and treatment of IDA in patients undergoing Upper GI (UGI) cancer surgery. Method A retrospective audit of all patients who underwent UGI cancer surgery in year 2019 at a tertiary centre. Data were collected from electronic records. Results Pre-operative haemoglobin level was performed in 110/111 (99.1%) patients. 43 (39.1%) patients were found to be anaemic using the WHO definition and 9/43 (20.9%) were severely anaemic (Hb &lt; 100g/L). All anaemic patients had iron status checked and 26/43 (60.5%) patients were diagnosed with IDA. 17/43 (39.5%) anaemic patients received treatment, including IV iron (n = 8), blood transfusion (n = 3), oral iron (n = 3), and both IV iron and blood transfusion (n = 3). Anaemic patients (n = 17) who received treatment had a significant improvement in anaemia (P = 0.005). Conclusions This audit has demonstrated good pre-operative anaemia and IDA screening; however anaemic patients are not adequately treated, and IV iron is not routinely offered. Pre-operative anaemia treatment is effective in improving haemoglobin level. We have implemented a new anaemia treatment pathway and MDT proforma to improve the quality of care.


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