Effect of ferroportin polymorphism on iron homeostasis and infection

Kasvosve, Ishmael

doi:10.1016/j.cca.2012.11.013

Cited by 26 publications

(20 citation statements)

References 84 publications

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“…The frequency of ferroportin Q248H allele was 8.9% and within the previously reported ranges of 2.2% to 13.4% in African populations [7]. The frequency of the mutation is much higher compared to populations studied in west and central Africa [16][17][18] but is similar to frequencies reported on populations from southern Africa [12].…”

Section: Discussionsupporting

confidence: 77%

“…The relationship between ferroportin Q248H mutation and iron stores was blunted in females as reported in other studies [7]. This could be explained in part by the additional physiological iron losses due to menstruation, and increased iron demand due to pregnancy.…”

Section: Discussionmentioning

confidence: 46%

“…The mutation is due to 744G → T substitution in exon 6 of the ferroportin gene, resulting in replacement of glutamine (uncharged amino acid) with histidine (positive amino acid), at position 248 (Q248H) [6]. Ferroportin Q248H mutation is present in African descendants but the frequency of the mutation varies across populations (reviewed in [7]). The effect of the ferroportin Q248H mutation on iron homeostasis is inconclusive [8,9].…”

Section: Introductionmentioning

confidence: 99%

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Serum ferritin concentration is affected by ferroportin Q248H mutation in Africans

Kasvosve

Tshwenyego

Phuthego

et al. 2015

Clinica Chimica Acta

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Section: Discussionsupporting

confidence: 77%

Section: Discussionmentioning

confidence: 46%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Serum ferritin concentration is affected by ferroportin Q248H mutation in Africans

Kasvosve

Tshwenyego

Phuthego

et al. 2015

Clinica Chimica Acta

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“…Inflammation induces anemia through complex pathological mechanisms involving, among others, inflammatory cytokines (interleukin-1, tumor necrosis factorα, and interferon-γ). 56,57 In response to inflammatory stimulus, hepcidin (a liver peptide) suppresses the expression of ferroportin (the iron export membrane protein) and so blocks iron efflux from macrophages (that leads to iron sequestration in reticuloendothelial cells) and also reduces iron absorption by duodenal enterocytes. 56,58,59 During inflammation, anemia may also be induced by erythropoiesis inhibition 59 or by direct hemolysis or shortening of RBC survival.…”

Section: Nutritionals Deficiencies-hypoalbuminemia and Idmentioning

confidence: 99%

Malaria Is More Prevalent Than Iron Deficiency among Anemic Pregnant Women at the First Antenatal Visit in Rural South Kivu

Bahizire

Tugirimana

Dramaix

et al. 2017

The American Journal of Tropical Medicine and Hygiene

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Anemia is common during pregnancy and is associated with poor outcomes. Objectives were not only 1) to determine the prevalence of anemia and iron deficiency (ID) but also 2) to identify other factors associated with anemia in pregnant women from South Kivu province, in the eastern Democratic Republic of Congo. Between December 2013 and March 2014, 531 women attending the first antenatal visit in their second trimester of pregnancy were recruited. Sociodemographic, clinical, and biological data were collected. Hemoglobin (Hb) was determined by a portable photometer (Hemocue Hb201+), and anemia was defined as altitude-adjusted Hb < 110 g/L. ID was defined as serum ferritin < 15 μg/L adjusted for inflammation status (C-reactive protein [CRP] > 5 mg/L and/or α-1-acid glycoprotein > 1 g/L) whereas hypoalbuminemia was defined as serum albumin < 35 g/L. A Giemsa-stained blood smear was used to diagnose malaria. The median age (interquartile range ) was 25.5 (21.1-31.3) years, with anemia in 17.6% and ID in 8%. Malaria was present in 7.5% and hypoalbuminemia among 44%. Soluble transferrin receptor concentration was higher in the presence of inflammation and/or malaria. In the final logistic regression model, factors independently associated with anemia were malaria (adjusted odds ratio [aOR]: 11.24 (4.98-25.37) < 0.001), hypoalbuminemia [aOR: 2.14 (1.27-3.59); = 0.004] and elevated CRP [aOR: 1.94 (1.10-3.45); = 0.022]. ID was not highly prevalent and not associated with anemia in our population. Effective control of anemia during pregnancy in this region should consider fighting malaria and other infectious diseases in combination with measures to improve women's nutrition, both before and during pregnancy.

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“…However, there are also non- HFE haemochromatoses, which include all hemochromatosis disorders that are unrelated to the typical HFE mutations [42]. Mutations in different genes are responsible for the distinct types of non-classical HFE hemochromatosis, including hepcidin [43], [44] and hemojuvelin (type 2 or juvenile hemochromatosis - resulting from mutations in iron regulatory protein, hemojuvelin – HJV gene [45]), transferrin receptor 2 (type 3 hemochromatosis -TFR2 gene [46], [47]; and mutations in the iron exporter, ferroportin 1 [48] (mutated in type 4, the atypical dominant form of primary iron overload - SLC40A1 gene) [41], [42], [49].…”

Section: Introductionmentioning

confidence: 99%

Profound Morphological Changes in the Erythrocytes and Fibrin Networks of Patients with Hemochromatosis or with Hyperferritinemia, and Their Normalization by Iron Chelators and Other Agents

et al. 2014

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It is well-known that individuals with increased iron levels are more prone to thrombotic diseases, mainly due to the presence of unliganded iron, and thereby the increased production of hydroxyl radicals. It is also known that erythrocytes (RBCs) may play an important role during thrombotic events. Therefore the purpose of the current study was to assess whether RBCs had an altered morphology in individuals with hereditary hemochromatosis (HH), as well as some who displayed hyperferritinemia (HF). Using scanning electron microscopy, we also assessed means by which the RBC and fibrin morphology might be normalized. An important objective was to test the hypothesis that the altered RBC morphology was due to the presence of excess unliganded iron by removing it through chelation. Very striking differences were observed, in that the erythrocytes from HH and HF individuals were distorted and had a much greater axial ratio compared to that accompanying the discoid appearance seen in the normal samples. The response to thrombin, and the appearance of a platelet-rich plasma smear, were also markedly different. These differences could largely be reversed by the iron chelator desferal and to some degree by the iron chelator clioquinol, or by the free radical trapping agents salicylate or selenite (that may themselves also be iron chelators). These findings are consistent with the view that the aberrant morphology of the HH and HF erythrocytes is caused, at least in part, by unliganded (‘free’) iron, whether derived directly via raised ferritin levels or otherwise, and that lowering it or affecting the consequences of its action may be of therapeutic benefit. The findings also bear on the question of the extent to which accepting blood donations from HH individuals may be desirable or otherwise.

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Effect of ferroportin polymorphism on iron homeostasis and infection

Cited by 26 publications

References 84 publications

Serum ferritin concentration is affected by ferroportin Q248H mutation in Africans

Serum ferritin concentration is affected by ferroportin Q248H mutation in Africans

Malaria Is More Prevalent Than Iron Deficiency among Anemic Pregnant Women at the First Antenatal Visit in Rural South Kivu

Profound Morphological Changes in the Erythrocytes and Fibrin Networks of Patients with Hemochromatosis or with Hyperferritinemia, and Their Normalization by Iron Chelators and Other Agents

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