GENETIC HAEMOCHROMATOSIS
SUMMARY Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism due to mutation of the HFE gene. In homozygotes (1 in 300 of the UK population), this results in excessive iron absorption from the gut and its deposition in major body organs. This may give rise to fati...
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| Veröffentlicht in: | International journal of clinical practice (Esher) 2002-10, Vol.56 (8), p.609-610 |
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| container_title | International journal of clinical practice (Esher) |
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| creator | Rosalk, SB |
| description | SUMMARY
Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism due to mutation of the HFE gene. In homozygotes (1 in 300 of the UK population), this results in excessive iron absorption from the gut and its deposition in major body organs. This may give rise to fatigue, arthritis, cardiac failure, diabetes mellitus, hepatic cirrhosis or skin pigmentation, occurring predominantly in males over 50 years of age. Identification uses measurement of serum iron, iron‐binding capacity (or transferrin) and ferritin, together with initial or confirmatory genetic DNA studies. |
| doi_str_mv | 10.1111/j.1742-1241.2002.tb11332.x |
| format | Article |
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Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism due to mutation of the HFE gene. In homozygotes (1 in 300 of the UK population), this results in excessive iron absorption from the gut and its deposition in major body organs. This may give rise to fatigue, arthritis, cardiac failure, diabetes mellitus, hepatic cirrhosis or skin pigmentation, occurring predominantly in males over 50 years of age. Identification uses measurement of serum iron, iron‐binding capacity (or transferrin) and ferritin, together with initial or confirmatory genetic DNA studies.</description><identifier>ISSN: 1368-5031</identifier><identifier>EISSN: 1742-1241</identifier><identifier>DOI: 10.1111/j.1742-1241.2002.tb11332.x</identifier><identifier>PMID: 12425371</identifier><language>eng</language><publisher>Oxford: Blackwell</publisher><subject>Biological and medical sciences ; Female ; Ferritins - blood ; Hemochromatosis - blood ; Hemochromatosis - diagnosis ; Hemochromatosis - genetics ; Homozygote ; Humans ; Iron - blood ; Male ; Mass Screening - methods ; Medical sciences ; Metabolic diseases ; Metals (hemochromatosis...) ; Middle Aged ; Mutation - genetics ; Other metabolic disorders ; United Kingdom</subject><ispartof>International journal of clinical practice (Esher), 2002-10, Vol.56 (8), p.609-610</ispartof><rights>2002 John Wiley & Sons Ltd</rights><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4058-6a0a072ffa0a05d90b1e3baa310d216f2e9daee3f7a2c52326986cc572a9cd043</citedby><cites>FETCH-LOGICAL-c4058-6a0a072ffa0a05d90b1e3baa310d216f2e9daee3f7a2c52326986cc572a9cd043</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1742-1241.2002.tb11332.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1742-1241.2002.tb11332.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13966832$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12425371$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rosalk, SB</creatorcontrib><title>GENETIC HAEMOCHROMATOSIS</title><title>International journal of clinical practice (Esher)</title><addtitle>Int J Clin Pract</addtitle><description>SUMMARY
Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism due to mutation of the HFE gene. In homozygotes (1 in 300 of the UK population), this results in excessive iron absorption from the gut and its deposition in major body organs. This may give rise to fatigue, arthritis, cardiac failure, diabetes mellitus, hepatic cirrhosis or skin pigmentation, occurring predominantly in males over 50 years of age. Identification uses measurement of serum iron, iron‐binding capacity (or transferrin) and ferritin, together with initial or confirmatory genetic DNA studies.</description><subject>Biological and medical sciences</subject><subject>Female</subject><subject>Ferritins - blood</subject><subject>Hemochromatosis - blood</subject><subject>Hemochromatosis - diagnosis</subject><subject>Hemochromatosis - genetics</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Iron - blood</subject><subject>Male</subject><subject>Mass Screening - methods</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metals (hemochromatosis...)</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Other metabolic disorders</subject><subject>United Kingdom</subject><issn>1368-5031</issn><issn>1742-1241</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkEtPwzAMxyMEYmNw54QQEtxaEqdJWm6j6h5oo4iNc5SmqdSpe9BsYvv2pFrFzvhiW_759UfogWCfOHte-EQE4BEIiA8Yg7_NCKEU_P0Z6v6Vzl1MeegxTEkHXVm7cChjIb5EHVcHRgXpotth8p7Mx_H9qJ9M03j0mU7783Q2nl2ji0JV1ty0voe-Bsk8HnmTdDiO-xNPB5iFHldYYQFF0XiWRzgjhmZKUYJzILwAE-XKGFoIBZoBBR6FXGsmQEU6xwHtoafj3E29_t4Zu5XL0mpTVWpl1jsrBXAhIg4OfDmCul5bW5tCbupyqeqDJFg2usiFbJ6XzfOy0UW2usi9a75rt-yypclPra0QDnhsAWW1qoparXRpTxyNOA9pc0V85H7Kyhz-cYIcv8UfrwOXiZD-AvyDfD0</recordid><startdate>200210</startdate><enddate>200210</enddate><creator>Rosalk, SB</creator><general>Blackwell</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200210</creationdate><title>GENETIC HAEMOCHROMATOSIS</title><author>Rosalk, SB</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4058-6a0a072ffa0a05d90b1e3baa310d216f2e9daee3f7a2c52326986cc572a9cd043</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Biological and medical sciences</topic><topic>Female</topic><topic>Ferritins - blood</topic><topic>Hemochromatosis - blood</topic><topic>Hemochromatosis - diagnosis</topic><topic>Hemochromatosis - genetics</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Iron - blood</topic><topic>Male</topic><topic>Mass Screening - methods</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metals (hemochromatosis...)</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Other metabolic disorders</topic><topic>United Kingdom</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rosalk, SB</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of clinical practice (Esher)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rosalk, SB</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>GENETIC HAEMOCHROMATOSIS</atitle><jtitle>International journal of clinical practice (Esher)</jtitle><addtitle>Int J Clin Pract</addtitle><date>2002-10</date><risdate>2002</risdate><volume>56</volume><issue>8</issue><spage>609</spage><epage>610</epage><pages>609-610</pages><issn>1368-5031</issn><eissn>1742-1241</eissn><abstract>SUMMARY
Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism due to mutation of the HFE gene. In homozygotes (1 in 300 of the UK population), this results in excessive iron absorption from the gut and its deposition in major body organs. This may give rise to fatigue, arthritis, cardiac failure, diabetes mellitus, hepatic cirrhosis or skin pigmentation, occurring predominantly in males over 50 years of age. Identification uses measurement of serum iron, iron‐binding capacity (or transferrin) and ferritin, together with initial or confirmatory genetic DNA studies.</abstract><cop>Oxford</cop><pub>Blackwell</pub><pmid>12425371</pmid><doi>10.1111/j.1742-1241.2002.tb11332.x</doi><tpages>2</tpages></addata></record> |
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| identifier | ISSN: 1368-5031 |
| ispartof | International journal of clinical practice (Esher), 2002-10, Vol.56 (8), p.609-610 |
| issn | 1368-5031 1742-1241 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Biological and medical sciences Female Ferritins - blood Hemochromatosis - blood Hemochromatosis - diagnosis Hemochromatosis - genetics Homozygote Humans Iron - blood Male Mass Screening - methods Medical sciences Metabolic diseases Metals (hemochromatosis...) Middle Aged Mutation - genetics Other metabolic disorders United Kingdom |
| title | GENETIC HAEMOCHROMATOSIS |
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