Pathogenic Mechanisms Underlying Iron Deficiency and Iron Overload: New Insights for Clinical Application
Identifieur interne : 000406 ( Pmc/Curation ); précédent : 000405; suivant : 000407Pathogenic Mechanisms Underlying Iron Deficiency and Iron Overload: New Insights for Clinical Application
Auteurs : Mj Kotze ; Dp Van Velden ; Sj Van Rensburg ; R. ErasmusSource :
- EJIFCC [ 1650-3414 ] ; 2009.
Abstract
Iron uptake, utilisation, release and storage occur at the gene level. Individuals with variant forms of genes involved in iron metabolism may have different requirements for iron and are likely to respond differently to the same amount of iron in the diet, a concept termed nutrigenetics. Iron deficiency, iron overload and the anemia of inflammation are the commonest iron-related disorders. While at least four types of hereditary iron overload have been identified to date, our knowledge of the genetic basis and consequences of inherited iron deficiency remain limited. The importance of genetic risk factors in relation to iron overload was highlighted with the identification of the HFE gene in 1996. Deleterious mutations in this gene account for 80-90% of inherited iron overload and are associated with loss of iron homeostasis, alterations in inflammatory responses, oxidative stress and in its most severe form, the disorder hereditary haemochromatosis (HH). Elucidation of the genetic basis of HH has led to rapid clinical benefit through drastic reduction in liver biopsies performed as part of the diagnostic work-up of affected patients. Today, detection of a genetic predisposition in the presence of high serum ferritin and transferrin saturation levels is usually sufficient to diagnose HH, thereby addressing the potential danger of inherited iron overload which starts with the same symptoms as iron deficiency, namely chronic fatigue. This review provides the scientific back-up for application of
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PubMed: 27683335
PubMed Central: 4975278
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Pathogenic Mechanisms Underlying Iron Deficiency and Iron Overload: New Insights for Clinical Application</title><author><name sortKey="Kotze, Mj" sort="Kotze, Mj" uniqKey="Kotze M" first="Mj" last="Kotze">Mj Kotze</name><affiliation><nlm:aff id="aff001"><institution>Department of Pathology, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></nlm:aff></affiliation></author><author><name sortKey="Van Velden, Dp" sort="Van Velden, Dp" uniqKey="Van Velden D" first="Dp" last="Van Velden">Dp Van Velden</name><affiliation><nlm:aff id="aff001"><institution>Department of Pathology, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></nlm:aff></affiliation></author><author><name sortKey="Van Rensburg, Sj" sort="Van Rensburg, Sj" uniqKey="Van Rensburg S" first="Sj" last="Van Rensburg">Sj Van Rensburg</name><affiliation><nlm:aff id="aff002">Division of Chemical Pathology,<institution>National Health Laboratory Services (NHLS) and Faculty of Health Sciences, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></nlm:aff></affiliation></author><author><name sortKey="Erasmus, R" sort="Erasmus, R" uniqKey="Erasmus R" first="R" last="Erasmus">R. Erasmus</name><affiliation><nlm:aff id="aff002">Division of Chemical Pathology,<institution>National Health Laboratory Services (NHLS) and Faculty of Health Sciences, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27683335</idno><idno type="pmc">4975278</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975278</idno><idno type="RBID">PMC:4975278</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">000407</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000407</idno><idno type="wicri:Area/Pmc/Curation">000406</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000406</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Pathogenic Mechanisms Underlying Iron Deficiency and Iron Overload: New Insights for Clinical Application</title><author><name sortKey="Kotze, Mj" sort="Kotze, Mj" uniqKey="Kotze M" first="Mj" last="Kotze">Mj Kotze</name><affiliation><nlm:aff id="aff001"><institution>Department of Pathology, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></nlm:aff></affiliation></author><author><name sortKey="Van Velden, Dp" sort="Van Velden, Dp" uniqKey="Van Velden D" first="Dp" last="Van Velden">Dp Van Velden</name><affiliation><nlm:aff id="aff001"><institution>Department of Pathology, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></nlm:aff></affiliation></author><author><name sortKey="Van Rensburg, Sj" sort="Van Rensburg, Sj" uniqKey="Van Rensburg S" first="Sj" last="Van Rensburg">Sj Van Rensburg</name><affiliation><nlm:aff id="aff002">Division of Chemical Pathology,<institution>National Health Laboratory Services (NHLS) and Faculty of Health Sciences, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></nlm:aff></affiliation></author><author><name sortKey="Erasmus, R" sort="Erasmus, R" uniqKey="Erasmus R" first="R" last="Erasmus">R. Erasmus</name><affiliation><nlm:aff id="aff002">Division of Chemical Pathology,<institution>National Health Laboratory Services (NHLS) and Faculty of Health Sciences, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></nlm:aff></affiliation></author></analytic><series><title level="j">EJIFCC</title><idno type="eISSN">1650-3414</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Iron uptake, utilisation, release and storage occur at the gene level. Individuals with variant forms of genes involved in iron metabolism may have different requirements for iron and are likely to respond differently to the same amount of iron in the diet, a concept termed nutrigenetics. Iron deficiency, iron overload and the anemia of inflammation are the commonest iron-related disorders. While at least four types of hereditary iron overload have been identified to date, our knowledge of the genetic basis and consequences of inherited iron deficiency remain limited. The importance of genetic risk factors in relation to iron overload was highlighted with the identification of the HFE gene in 1996. Deleterious mutations in this gene account for 80-90% of inherited iron overload and are associated with loss of iron homeostasis, alterations in inflammatory responses, oxidative stress and in its most severe form, the disorder hereditary haemochromatosis (HH). Elucidation of the genetic basis of HH has led to rapid clinical benefit through drastic reduction in liver biopsies performed as part of the diagnostic work-up of affected patients. Today, detection of a genetic predisposition in the presence of high serum ferritin and transferrin saturation levels is usually sufficient to diagnose HH, thereby addressing the potential danger of inherited iron overload which starts with the same symptoms as iron deficiency, namely chronic fatigue. This review provides the scientific back-up for application of <italic>pathology supported genetic testing</italic>, a new test concept that is well placed for optimizing clinical benefit to patients with regard to iron status.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Beerenhout, C" uniqKey="Beerenhout C">C Beerenhout</name></author><author><name sortKey="Bekers, O" uniqKey="Bekers O">O Bekers</name></author><author><name sortKey="Kooman, Jp" uniqKey="Kooman J">JP Kooman</name></author><author><name sortKey="Van Der Sande, Fm" uniqKey="Van Der Sande F">FM van der Sande</name></author><author><name sortKey="Leunissen, Km" uniqKey="Leunissen K">KM Leunissen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Biesalski, Hk" uniqKey="Biesalski H">HK Biesalski</name></author><author><name sortKey="Erhard, J" uniqKey="Erhard J">J. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">EJIFCC</journal-id><journal-id journal-id-type="iso-abbrev">EJIFCC</journal-id><journal-id journal-id-type="publisher-id">eJIFCC</journal-id><journal-title-group><journal-title>EJIFCC</journal-title></journal-title-group><issn pub-type="epub">1650-3414</issn><publisher><publisher-name>The Communications and Publications Division (CPD) of the IFCC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27683335</article-id><article-id pub-id-type="pmc">4975278</article-id><article-id pub-id-type="publisher-id">ejifcc-20-108</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Pathogenic Mechanisms Underlying Iron Deficiency and Iron Overload: New Insights for Clinical Application</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Kotze</surname><given-names>MJ</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref><xref ref-type="corresp" rid="cor1"></xref></contrib><contrib contrib-type="author"><name><surname>van Velden</surname><given-names>DP</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>van Rensburg</surname><given-names>SJ</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Erasmus</surname><given-names>R</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref></contrib></contrib-group><aff id="aff001"><label>1</label><institution>Department of Pathology, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></aff><aff id="aff002"><label>2</label>Division of Chemical Pathology,<institution>National Health Laboratory Services (NHLS) and Faculty of Health Sciences, University of Stellenbosch</institution>,<addr-line>Tygerberg, South Africa</addr-line>.<email>maritha@sun.ac.za</email></aff><author-notes><corresp id="cor1"><email>maritha@sun.ac.za</email></corresp></author-notes><pub-date pub-type="epub"><day>25</day><month>8</month><year>2009</year></pub-date><pub-date pub-type="collection"><month>8</month><year>2009</year></pub-date><volume>20</volume><issue>2</issue><fpage>108</fpage><lpage>123</lpage><permissions><copyright-statement>Copyright © 2009 International Federation of Clinical Chemistry and Laboratory Medicine (IFCC). All rights reserved.</copyright-statement><copyright-year>2009</copyright-year><copyright-holder>International Federation of Clinical Chemistry and Laboratory Medicine (IFCC)</copyright-holder><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (<uri xlink:href="http://creativecommons.org/licenses/by-nc/3.0/">http://creativecommons.org/licenses/by-nc/3.0/</uri>) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p>Iron uptake, utilisation, release and storage occur at the gene level. Individuals with variant forms of genes involved in iron metabolism may have different requirements for iron and are likely to respond differently to the same amount of iron in the diet, a concept termed nutrigenetics. Iron deficiency, iron overload and the anemia of inflammation are the commonest iron-related disorders. While at least four types of hereditary iron overload have been identified to date, our knowledge of the genetic basis and consequences of inherited iron deficiency remain limited. The importance of genetic risk factors in relation to iron overload was highlighted with the identification of the HFE gene in 1996. Deleterious mutations in this gene account for 80-90% of inherited iron overload and are associated with loss of iron homeostasis, alterations in inflammatory responses, oxidative stress and in its most severe form, the disorder hereditary haemochromatosis (HH). Elucidation of the genetic basis of HH has led to rapid clinical benefit through drastic reduction in liver biopsies performed as part of the diagnostic work-up of affected patients. Today, detection of a genetic predisposition in the presence of high serum ferritin and transferrin saturation levels is usually sufficient to diagnose HH, thereby addressing the potential danger of inherited iron overload which starts with the same symptoms as iron deficiency, namely chronic fatigue. This review provides the scientific back-up for application of <italic>pathology supported genetic testing</italic>, a new test concept that is well placed for optimizing clinical benefit to patients with regard to iron status.</p></abstract><kwd-group><title>Key words</title><kwd>iron status</kwd><kwd>iron deficiency</kwd><kwd>iron overload</kwd><kwd>anemia</kwd></kwd-group><counts><fig-count count="0"></fig-count><table-count count="2"></table-count><equation-count count="0"></equation-count><ref-count count="45"></ref-count><page-count count="16"></page-count></counts></article-meta></front><floats-group><table-wrap id="table001" orientation="portrait" position="float"><label>Table 1.</label><caption><p>Symptoms and signs of inherited iron overload.</p></caption><table frame="box" rules="all"><thead><tr><th align="left" rowspan="1" colspan="1">Symptoms and signs</th><th align="left" rowspan="1" colspan="1">Medical conditions</th></tr></thead><tbody><tr><td align="left" valign="top" rowspan="1" colspan="1">Abnormal liver function</td><td align="left" valign="top" rowspan="1" colspan="1">Arrhythmias</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Abdominal pain (unexplained)</td><td align="left" valign="top" rowspan="1" colspan="1">Arthritis, arthralgia</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Bronzing of the skin</td><td align="left" valign="top" rowspan="1" colspan="1">Cardiomyopathy</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Amenorrhoea (no menstrual periods, females)</td><td align="left" valign="top" rowspan="1" colspan="1">Chronic fatigue</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Anterior pituitary failure</td><td align="left" valign="top" rowspan="1" colspan="1">Chronic liver disease</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Frequent diarrhoea</td><td align="left" valign="top" rowspan="1" colspan="1">Cirrhosis of the liver</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Hyperferriteinaemia</td><td align="left" valign="top" rowspan="1" colspan="1">Depression</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Impotence (males)</td><td align="left" valign="top" rowspan="1" colspan="1">Diabetes mellitus Type 1</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Insulin resistance</td><td align="left" valign="top" rowspan="1" colspan="1">Diabetes mellitus Type 2</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Joint pain</td><td align="left" valign="top" rowspan="1" colspan="1">Fatty liver disease</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Loss of body hair</td><td align="left" valign="top" rowspan="1" colspan="1">Hepatocellular carcinoma</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Loss of libido</td><td align="left" valign="top" rowspan="1" colspan="1">Infertility</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Mood swings</td><td align="left" valign="top" rowspan="1" colspan="1">Metabolic syndrome</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Muscle pain</td><td align="left" valign="top" rowspan="1" colspan="1">Porphyria cutanea tarda</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Skin pigmentation</td><td align="left" valign="top" rowspan="1" colspan="1">Testicular atrophy (males)</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Weakness</td><td align="left" valign="top" rowspan="1" colspan="1"></td></tr></tbody></table></table-wrap><table-wrap id="table002" orientation="portrait" position="float"><label>Table 2.</label><caption><p>Biochemical determinations and environmental factors of relevance to iron status</p></caption><table frame="box" rules="all"><thead><tr><th align="left" rowspan="1" colspan="1">Biochemistry</th><th align="left" rowspan="1" colspan="1">Environmental factors</th></tr></thead><tbody><tr><td align="left" valign="top" rowspan="1" colspan="1">Haemoglobin</td><td align="left" valign="top" rowspan="1" colspan="1">Alcohol intake</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Serum iron</td><td align="left" valign="top" rowspan="1" colspan="1">Tea intake</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Transferrin</td><td align="left" valign="top" rowspan="1" colspan="1">Copper deficiency</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Transferrin saturation</td><td align="left" valign="top" rowspan="1" colspan="1">Folate deficiency</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Ferritin</td><td align="left" valign="top" rowspan="1" colspan="1">Zinc deficiency</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Liver function tests (ALT, AST, LH)</td><td align="left" valign="top" rowspan="1" colspan="1">Iron supplementation</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">C-reactive protein (CRP) levels</td><td align="left" valign="top" rowspan="1" colspan="1">Vegetarian/vegan</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Alpha-1-glycoprotein (AGP)</td><td align="left" valign="top" rowspan="1" colspan="1">Vitamin C supplementation</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">Homocysteine</td><td align="left" valign="top" rowspan="1" colspan="1">Blood donation</td></tr></tbody></table></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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